NBN (nibrin)

Gene

• Entrez ID: 4683
• Gene name: Nibrin
• Gene symbol: NBN
• Synonyms (NCBI Gene): AT-V1, AT-V2, ATV, NBS, NBS1, P95, hNbs1
• Disease Acronyms (UniProt): NBS
• Chromosome: 8
• Chromosome location: 8q21.3
• Summary: Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs769414	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs12721593	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs34767364	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs61753717	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs61753720	C>A,G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, 5 prime UTR variant, missense variant
rs61754966	T>C,G	Risk-factor, uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs61754967	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs104895032	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs121908973	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs121908974	G>A,C,T	Likely-benign, benign-likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Synonymous variant, stop gained, coding sequence variant
rs141137543	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142301194	A>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs142334798	A>C,T	Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs143948240	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs146989944	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs147626427	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, missense variant
rs200287925	G>A	Pathogenic, pathogenic-likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs200297914	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200452212	T>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs201392451	C>T	Conflicting-interpretations-of-pathogenicity, benign	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs202104448	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs368786672	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs369408590	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Genic upstream transcript variant, upstream transcript variant, intron variant
rs369910645	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs371480039	A>G,T	Uncertain-significance, pathogenic-likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs375862750	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs529340553	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs539960851	A>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs551032019	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs556807466	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Genic upstream transcript variant, intron variant, upstream transcript variant
rs570914185	T>C	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, genic downstream transcript variant, intron variant
rs574673404	C>T	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs577706448	C>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs587776650	GTTTT>-	Risk-factor, pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs587780091	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs587780095	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs587780096	C>A,G	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs587780100	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs587781305	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs587781557	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs587781620	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs587781718	TT>-,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs587781891	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs587781969	G>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs587782130	G>A,T	Uncertain-significance, pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs587782147	A>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs587782290	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Upstream transcript variant, intron variant, genic upstream transcript variant
rs587782330	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs587782344	->T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs587782545	T>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs587782653	TTTTAATCACCAGT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs730881839	->T	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs730881840	GATTTCGGCTGATCGACTGATCATTTTCAAT>-	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs730881850	A>T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs730881857	G>C	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs730881859	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs730881864	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs745355767	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs746422391	A>G	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, missense variant, initiator codon variant, upstream transcript variant, 5 prime UTR variant
rs746994234	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs748453607	G>A,C,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs748513310	TT>-,TTT	Pathogenic	Coding sequence variant, frameshift variant
rs750375741	CA>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant, 5 prime UTR variant
rs751567476	T>A,C	Likely-pathogenic	Splice acceptor variant, intron variant
rs754352569	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs754651655	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs754659423	A>G,T	Likely-pathogenic	Splice donor variant
rs754864893	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs756363734	C>A,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs756572268	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs758708229	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs758830069	ATTGGACGTCCACAAAT>-	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs759232053	C>-	Likely-pathogenic, pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs760237820	->C	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs762664474	->CT	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs764884516	GG>G,T	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs766044684	TTTTT>-,T,TTTTTT	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs767215758	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs767454740	AA>-	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs768378152	CT>-	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs771475965	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs772005832	T>C	Likely-pathogenic	Splice acceptor variant
rs774989816	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs775397477	T>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs776417262	G>-	Likely-pathogenic	Stop gained, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs778306619	C>A,T	Likely-pathogenic	Splice donor variant
rs779098734	T>A	Pathogenic, likely-pathogenic	5 prime UTR variant, upstream transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs780235686	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs786201745	C>A	Pathogenic-likely-pathogenic, pathogenic	Downstream transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs786201965	C>G,T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs786202490	AC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs786202494	AT>-	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs786203223	A>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs786203662	AC>G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, splice acceptor variant
rs786203920	T>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs786204181	C>G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant
rs786205135	A>C	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs864309668	CTGT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs864309669	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs864309670	->CC	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs864622090	T>A,C	Likely-pathogenic	Splice acceptor variant
rs864622143	G>A	Pathogenic, pathogenic-likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, stop gained, coding sequence variant
rs864622253	CA>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs864622333	->AGACATTTCTTGA	Pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs864622511	G>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs876658183	->A	Uncertain-significance, likely-pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs876659305	AA>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs876659521	T>C,G	Likely-pathogenic	Splice acceptor variant
rs876659592	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876659666	AAAACAGAC>TGT	Likely-pathogenic	Splice donor variant, intron variant
rs876660290	G>C	Pathogenic	Stop gained, coding sequence variant
rs876661130	C>T	Likely-pathogenic	5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant, upstream transcript variant
rs876661189	->AA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs876661254	->GGAATTAAGGTCTGTGAGTTTGTTATTCCTGT	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, inframe insertion
rs878854511	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs886063169	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs931715719	C>T	Likely-pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs941732827	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs962092255	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057516320	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1057516332	->T	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant
rs1057516392	->T	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1057516611	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516668	T>-	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516772	CAGGTTGGTTAC>-	Likely-pathogenic, pathogenic-likely-pathogenic	Upstream transcript variant, intron variant, coding sequence variant, splice donor variant, genic upstream transcript variant, 5 prime UTR variant
rs1057516787	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs1057516852	AG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057516869	TT>A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1057517075	A>-	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517102	C>T	Likely-pathogenic	Splice acceptor variant
rs1057517104	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057517209	C>G,T	Likely-pathogenic	Splice donor variant
rs1057517262	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057519585	A>C	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1057519586	A>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1057519587	TTCAGGAATAGGTCTAAGACCTTGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519588	C>T	Pathogenic	Coding sequence variant, stop gained
rs1060503463	A>C	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1060503466	CATT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1060503467	C>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1060503480	G>C	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, downstream transcript variant
rs1060503483	->T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant
rs1060503485	C>-	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1060504925	TAAAA>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs1064793210	A>-	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1064795037	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1064795634	GAAT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1064795816	C>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1178384498	CCTT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1198614767	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, intron variant, stop gained
rs1199711768	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1238152597	ATTT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1309274168	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs1345924774	C>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1349928568	T>-,TT	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, splice donor variant
rs1364533250	C>T	Likely-pathogenic	Splice donor variant
rs1394437421	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1394578008	C>T	Likely-pathogenic	Splice acceptor variant
rs1444306607	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1456827107	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1487002693	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, intron variant
rs1554554265	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554554267	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554555782	CGAGCATGATGAGCTATTAGATC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554555835	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554556454	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, splice donor variant
rs1554556485	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1554556544	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1554556587	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1554556880	CAGAT>-	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, splice donor variant
rs1554558270	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs1554558319	TTCCAATACTTCATCTTCTATGGCCACATCATCCATTTCCCTTTTTTTATTTGATCTTAGCTTTTCTGCAGCATGAGATTTACTG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, downstream transcript variant
rs1554558406	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs1554558423	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, downstream transcript variant
rs1554558449	AGAT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, downstream transcript variant
rs1554558472	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs1554558613	C>A	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554559028	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554559038	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554559083	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554559094	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1554559212	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs1554559314	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554559323	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554559348	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554559373	T>C	Likely-pathogenic	Splice acceptor variant
rs1554560352	A>C	Likely-pathogenic	Splice donor variant
rs1554560432	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1554560523	C>G	Likely-pathogenic	Splice acceptor variant
rs1554562083	C>A	Likely-pathogenic	Splice donor variant
rs1554562110	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554562185	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554563822	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554563861	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554563878	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554563955	->C	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554564205	T>A	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554564297	ATCAAGAGGTGGG>CAA	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554564309	->T	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554566613	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant
rs1554566678	TTC>A	Pathogenic	Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant
rs1554567847	->A	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554567892	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554567902	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554567960	AAAG>GT	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554567972	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568029	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568340	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568344	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568348	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554568427	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554569106	TTTCCTT>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs1563497529	TACCTAAAAAGAT>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, genic downstream transcript variant
rs1563525004	C>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563525210	T>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563525678	->C	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563526063	TT>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563526747	->G	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1563539146	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1563548315	CTGTAC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1563548624	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1563549036	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563559078	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563561558	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563578540	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563578596	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563578727	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563580433	A>C	Likely-pathogenic	Splice donor variant
rs1563580865	->AGTTC	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1563581193	A>C,G	Likely-benign, pathogenic	5 prime UTR variant, synonymous variant, coding sequence variant, stop gained
rs1586024147	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1586035111	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1586043528	CA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, genic downstream transcript variant
rs1586052622	A>G	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1586052851	->G	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586052920	T>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586053378	->A	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586053399	G>A	Pathogenic	Stop gained, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586054483	GT>-	Pathogenic	Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1586058444	->A	Pathogenic	Coding sequence variant, stop gained
rs1586058892	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586059584	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586065938	C>A	Pathogenic	Coding sequence variant, stop gained
rs1586075907	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1586075954	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1586076299	C>T	Likely-pathogenic	Splice acceptor variant
rs1586086338	CCATTAT>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, initiator codon variant
rs1586086621	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1586088347	C>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, splice donor variant
rs1586088503	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1586088924	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1586101154	A>G	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs1586101198	->GCTGCTTCTTGGACTCA	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1586101226	->T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1586101561	->A	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1586101609	->T	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1586108633	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1586108714	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1586108827	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021833	hsa-miR-132-3p	Microarray	17612493
MIRT024642	hsa-miR-215-5p	Microarray	19074876
MIRT026789	hsa-miR-192-5p	Microarray	19074876
MIRT1174808	hsa-miR-101	CLIP-seq
MIRT1174809	hsa-miR-1243	CLIP-seq
MIRT1174810	hsa-miR-1253	CLIP-seq
MIRT1174811	hsa-miR-1270	CLIP-seq
MIRT1174812	hsa-miR-1273d	CLIP-seq
MIRT1174813	hsa-miR-1275	CLIP-seq
MIRT1174814	hsa-miR-1284	CLIP-seq
MIRT1174815	hsa-miR-1295	CLIP-seq
MIRT1174816	hsa-miR-1301	CLIP-seq
MIRT1174817	hsa-miR-132	CLIP-seq
MIRT1174818	hsa-miR-134	CLIP-seq
MIRT1174819	hsa-miR-139-5p	CLIP-seq
MIRT1174820	hsa-miR-144	CLIP-seq
MIRT1174821	hsa-miR-185	CLIP-seq
MIRT1174822	hsa-miR-186	CLIP-seq
MIRT1174823	hsa-miR-2113	CLIP-seq
MIRT1174824	hsa-miR-212	CLIP-seq
MIRT1174825	hsa-miR-2278	CLIP-seq
MIRT1174826	hsa-miR-2682	CLIP-seq
MIRT1174827	hsa-miR-297	CLIP-seq
MIRT1174828	hsa-miR-3118	CLIP-seq
MIRT1174829	hsa-miR-3124-3p	CLIP-seq
MIRT1174830	hsa-miR-3133	CLIP-seq
MIRT1174831	hsa-miR-3146	CLIP-seq
MIRT1174832	hsa-miR-3149	CLIP-seq
MIRT1174833	hsa-miR-3164	CLIP-seq
MIRT1174834	hsa-miR-3170	CLIP-seq
MIRT1174835	hsa-miR-3174	CLIP-seq
MIRT1174836	hsa-miR-3200-5p	CLIP-seq
MIRT1174837	hsa-miR-3202	CLIP-seq
MIRT1174838	hsa-miR-3545-3p	CLIP-seq
MIRT1174839	hsa-miR-3617	CLIP-seq
MIRT1174840	hsa-miR-3667-5p	CLIP-seq
MIRT1174841	hsa-miR-3675-5p	CLIP-seq
MIRT1174842	hsa-miR-3714	CLIP-seq
MIRT1174843	hsa-miR-3922-5p	CLIP-seq
MIRT1174844	hsa-miR-3929	CLIP-seq
MIRT1174845	hsa-miR-3936	CLIP-seq
MIRT1174846	hsa-miR-3973	CLIP-seq
MIRT1174847	hsa-miR-3978	CLIP-seq
MIRT1174848	hsa-miR-410	CLIP-seq
MIRT1174849	hsa-miR-4251	CLIP-seq
MIRT1174850	hsa-miR-4292	CLIP-seq
MIRT1174851	hsa-miR-4299	CLIP-seq
MIRT1174852	hsa-miR-4306	CLIP-seq
MIRT1174853	hsa-miR-4308	CLIP-seq
MIRT1174854	hsa-miR-4419b	CLIP-seq
MIRT1174855	hsa-miR-4456	CLIP-seq
MIRT1174856	hsa-miR-4468	CLIP-seq
MIRT1174857	hsa-miR-4476	CLIP-seq
MIRT1174858	hsa-miR-4478	CLIP-seq
MIRT1174859	hsa-miR-4496	CLIP-seq
MIRT1174860	hsa-miR-449c	CLIP-seq
MIRT1174861	hsa-miR-4525	CLIP-seq
MIRT1174862	hsa-miR-4531	CLIP-seq
MIRT1174863	hsa-miR-4533	CLIP-seq
MIRT1174864	hsa-miR-4644	CLIP-seq
MIRT1174865	hsa-miR-4660	CLIP-seq
MIRT1174866	hsa-miR-4665-5p	CLIP-seq
MIRT1174867	hsa-miR-4693-3p	CLIP-seq
MIRT1174868	hsa-miR-4704-5p	CLIP-seq
MIRT1174869	hsa-miR-4716-5p	CLIP-seq
MIRT1174870	hsa-miR-4717-5p	CLIP-seq
MIRT1174871	hsa-miR-4723-5p	CLIP-seq
MIRT1174872	hsa-miR-4760-3p	CLIP-seq
MIRT1174873	hsa-miR-4765	CLIP-seq
MIRT1174874	hsa-miR-4766-5p	CLIP-seq
MIRT1174875	hsa-miR-4789-5p	CLIP-seq
MIRT1174876	hsa-miR-5047	CLIP-seq
MIRT1174877	hsa-miR-513a-3p	CLIP-seq
MIRT1174878	hsa-miR-520g	CLIP-seq
MIRT1174879	hsa-miR-520h	CLIP-seq
MIRT1174880	hsa-miR-548a-3p	CLIP-seq
MIRT1174881	hsa-miR-548e	CLIP-seq
MIRT1174882	hsa-miR-548f	CLIP-seq
MIRT1174883	hsa-miR-548q	CLIP-seq
MIRT1174884	hsa-miR-548v	CLIP-seq
MIRT1174885	hsa-miR-552	CLIP-seq
MIRT1174886	hsa-miR-561	CLIP-seq
MIRT1174887	hsa-miR-570	CLIP-seq
MIRT1174888	hsa-miR-579	CLIP-seq
MIRT1174889	hsa-miR-587	CLIP-seq
MIRT1174890	hsa-miR-599	CLIP-seq
MIRT1174891	hsa-miR-620	CLIP-seq
MIRT1174892	hsa-miR-625	CLIP-seq
MIRT1174893	hsa-miR-635	CLIP-seq
MIRT1174894	hsa-miR-641	CLIP-seq
MIRT1174895	hsa-miR-643	CLIP-seq
MIRT1174896	hsa-miR-656	CLIP-seq
MIRT1174897	hsa-miR-664	CLIP-seq
MIRT1174898	hsa-miR-875-3p	CLIP-seq
MIRT1174809	hsa-miR-1243	CLIP-seq
MIRT1174814	hsa-miR-1284	CLIP-seq
MIRT2050565	hsa-miR-1323	CLIP-seq
MIRT2050566	hsa-miR-2054	CLIP-seq
MIRT1174827	hsa-miR-297	CLIP-seq
MIRT1174830	hsa-miR-3133	CLIP-seq
MIRT2050567	hsa-miR-3148	CLIP-seq
MIRT1174832	hsa-miR-3149	CLIP-seq
MIRT1174840	hsa-miR-3667-5p	CLIP-seq
MIRT1174841	hsa-miR-3675-5p	CLIP-seq
MIRT1174848	hsa-miR-410	CLIP-seq
MIRT2050568	hsa-miR-4267	CLIP-seq
MIRT2050569	hsa-miR-4459	CLIP-seq
MIRT1174857	hsa-miR-4476	CLIP-seq
MIRT2050570	hsa-miR-4477a	CLIP-seq
MIRT2050571	hsa-miR-4680-5p	CLIP-seq
MIRT1174868	hsa-miR-4704-5p	CLIP-seq
MIRT1174869	hsa-miR-4716-5p	CLIP-seq
MIRT1174875	hsa-miR-4789-5p	CLIP-seq
MIRT2050572	hsa-miR-4797-3p	CLIP-seq
MIRT2050573	hsa-miR-548o	CLIP-seq
MIRT2050574	hsa-miR-548u	CLIP-seq
MIRT1174895	hsa-miR-643	CLIP-seq
MIRT1174897	hsa-miR-664	CLIP-seq
MIRT2050575	hsa-miR-889	CLIP-seq
MIRT1174808	hsa-miR-101	CLIP-seq
MIRT2279719	hsa-miR-1226	CLIP-seq
MIRT2279720	hsa-miR-1248	CLIP-seq
MIRT1174812	hsa-miR-1273d	CLIP-seq
MIRT2279721	hsa-miR-1287	CLIP-seq
MIRT1174816	hsa-miR-1301	CLIP-seq
MIRT2279722	hsa-miR-130a	CLIP-seq
MIRT2279723	hsa-miR-130b	CLIP-seq
MIRT1174817	hsa-miR-132	CLIP-seq
MIRT1174819	hsa-miR-139-5p	CLIP-seq
MIRT1174820	hsa-miR-144	CLIP-seq
MIRT2050566	hsa-miR-2054	CLIP-seq
MIRT1174824	hsa-miR-212	CLIP-seq
MIRT2279724	hsa-miR-2392	CLIP-seq
MIRT1174826	hsa-miR-2682	CLIP-seq
MIRT2279725	hsa-miR-301a	CLIP-seq
MIRT2279726	hsa-miR-301b	CLIP-seq
MIRT2279727	hsa-miR-31	CLIP-seq
MIRT2279728	hsa-miR-3135b	CLIP-seq
MIRT2279729	hsa-miR-3165	CLIP-seq
MIRT2279730	hsa-miR-3171	CLIP-seq
MIRT1174835	hsa-miR-3174	CLIP-seq
MIRT1174837	hsa-miR-3202	CLIP-seq
MIRT2279731	hsa-miR-329	CLIP-seq
MIRT2279732	hsa-miR-34c-3p	CLIP-seq
MIRT2279733	hsa-miR-362-3p	CLIP-seq
MIRT2279734	hsa-miR-3646	CLIP-seq
MIRT2279735	hsa-miR-3662	CLIP-seq
MIRT2279736	hsa-miR-3666	CLIP-seq
MIRT2279737	hsa-miR-3668	CLIP-seq
MIRT2279738	hsa-miR-3692	CLIP-seq
MIRT1174842	hsa-miR-3714	CLIP-seq
MIRT1174843	hsa-miR-3922-5p	CLIP-seq
MIRT2279739	hsa-miR-3927	CLIP-seq
MIRT2279740	hsa-miR-3941	CLIP-seq
MIRT2279741	hsa-miR-4276	CLIP-seq
MIRT2279742	hsa-miR-4287	CLIP-seq
MIRT2279743	hsa-miR-4295	CLIP-seq
MIRT1174851	hsa-miR-4299	CLIP-seq
MIRT2279744	hsa-miR-4302	CLIP-seq
MIRT1174855	hsa-miR-4456	CLIP-seq
MIRT2050569	hsa-miR-4459	CLIP-seq
MIRT2279745	hsa-miR-4477b	CLIP-seq
MIRT1174860	hsa-miR-449c	CLIP-seq
MIRT1174863	hsa-miR-4533	CLIP-seq
MIRT2279746	hsa-miR-454	CLIP-seq
MIRT1174865	hsa-miR-4660	CLIP-seq
MIRT2050571	hsa-miR-4680-5p	CLIP-seq
MIRT2279747	hsa-miR-4685-3p	CLIP-seq
MIRT1174867	hsa-miR-4693-3p	CLIP-seq
MIRT2279748	hsa-miR-4698	CLIP-seq
MIRT2279749	hsa-miR-4708-3p	CLIP-seq
MIRT1174869	hsa-miR-4716-5p	CLIP-seq
MIRT2279750	hsa-miR-4724-3p	CLIP-seq
MIRT1174872	hsa-miR-4760-3p	CLIP-seq
MIRT2279751	hsa-miR-4761-5p	CLIP-seq
MIRT1174873	hsa-miR-4765	CLIP-seq
MIRT2279752	hsa-miR-494	CLIP-seq
MIRT2279753	hsa-miR-499-3p	CLIP-seq
MIRT2279754	hsa-miR-499a-3p	CLIP-seq
MIRT1174876	hsa-miR-5047	CLIP-seq
MIRT2279755	hsa-miR-513a-5p	CLIP-seq
MIRT2279756	hsa-miR-513b	CLIP-seq
MIRT2279757	hsa-miR-548ag	CLIP-seq
MIRT2279758	hsa-miR-548ai	CLIP-seq
MIRT1174883	hsa-miR-548q	CLIP-seq
MIRT2050574	hsa-miR-548u	CLIP-seq
MIRT1174884	hsa-miR-548v	CLIP-seq
MIRT1174885	hsa-miR-552	CLIP-seq
MIRT1174887	hsa-miR-570	CLIP-seq
MIRT2279759	hsa-miR-603	CLIP-seq
MIRT2279760	hsa-miR-640	CLIP-seq
MIRT2050575	hsa-miR-889	CLIP-seq
MIRT2279735	hsa-miR-3662	CLIP-seq
MIRT2279719	hsa-miR-1226	CLIP-seq
MIRT2279720	hsa-miR-1248	CLIP-seq
MIRT1174812	hsa-miR-1273d	CLIP-seq
MIRT2279721	hsa-miR-1287	CLIP-seq
MIRT1174829	hsa-miR-3124-3p	CLIP-seq
MIRT2279728	hsa-miR-3135b	CLIP-seq
MIRT2279730	hsa-miR-3171	CLIP-seq
MIRT2578360	hsa-miR-3194-5p	CLIP-seq
MIRT2578361	hsa-miR-3591-3p	CLIP-seq
MIRT2578362	hsa-miR-3655	CLIP-seq
MIRT1174840	hsa-miR-3667-5p	CLIP-seq
MIRT2279737	hsa-miR-3668	CLIP-seq
MIRT1174845	hsa-miR-3936	CLIP-seq
MIRT2050568	hsa-miR-4267	CLIP-seq
MIRT2279742	hsa-miR-4287	CLIP-seq
MIRT1174851	hsa-miR-4299	CLIP-seq
MIRT1174855	hsa-miR-4456	CLIP-seq
MIRT2050569	hsa-miR-4459	CLIP-seq
MIRT2578363	hsa-miR-4528	CLIP-seq
MIRT2578364	hsa-miR-4646-3p	CLIP-seq
MIRT2050571	hsa-miR-4680-5p	CLIP-seq
MIRT2279747	hsa-miR-4685-3p	CLIP-seq
MIRT1174869	hsa-miR-4716-5p	CLIP-seq
MIRT2578365	hsa-miR-4732-5p	CLIP-seq
MIRT2578366	hsa-miR-4733-3p	CLIP-seq
MIRT2578367	hsa-miR-4786-3p	CLIP-seq
MIRT2050572	hsa-miR-4797-3p	CLIP-seq
MIRT2279755	hsa-miR-513a-5p	CLIP-seq
MIRT1174883	hsa-miR-548q	CLIP-seq
MIRT2050574	hsa-miR-548u	CLIP-seq
MIRT2578368	hsa-miR-549	CLIP-seq
MIRT1174885	hsa-miR-552	CLIP-seq
MIRT1174887	hsa-miR-570	CLIP-seq
MIRT1174889	hsa-miR-587	CLIP-seq
MIRT1174897	hsa-miR-664	CLIP-seq
MIRT2279719	hsa-miR-1226	CLIP-seq
MIRT2279720	hsa-miR-1248	CLIP-seq
MIRT2279721	hsa-miR-1287	CLIP-seq
MIRT2685874	hsa-miR-3120-3p	CLIP-seq
MIRT2279728	hsa-miR-3135b	CLIP-seq
MIRT2685875	hsa-miR-331-5p	CLIP-seq
MIRT2685876	hsa-miR-338-5p	CLIP-seq
MIRT2578361	hsa-miR-3591-3p	CLIP-seq
MIRT2685877	hsa-miR-3919	CLIP-seq
MIRT2685878	hsa-miR-3925-5p	CLIP-seq
MIRT2279742	hsa-miR-4287	CLIP-seq
MIRT2685879	hsa-miR-4432	CLIP-seq
MIRT2050569	hsa-miR-4459	CLIP-seq
MIRT2578363	hsa-miR-4528	CLIP-seq
MIRT2050571	hsa-miR-4680-5p	CLIP-seq
MIRT2279747	hsa-miR-4685-3p	CLIP-seq
MIRT2578366	hsa-miR-4733-3p	CLIP-seq
MIRT2578367	hsa-miR-4786-3p	CLIP-seq
MIRT2685880	hsa-miR-499-5p	CLIP-seq
MIRT2279755	hsa-miR-513a-5p	CLIP-seq
MIRT2050574	hsa-miR-548u	CLIP-seq
MIRT2578368	hsa-miR-549	CLIP-seq
MIRT1174886	hsa-miR-561	CLIP-seq
MIRT1174897	hsa-miR-664	CLIP-seq
MIRT2685881	hsa-miR-885-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SIRT1	Activation	18692496

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint	IDA	12529385
GO:0000723	Process	Telomere maintenance	IMP	11448772
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA	21873635
GO:0000724	Process	Double-strand break repair via homologous recombination	TAS
GO:0000729	Process	DNA double-strand break processing	TAS
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	10888888
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0001832	Process	Blastocyst growth	IEA
GO:0003684	Function	Damaged DNA binding	IBA	21873635
GO:0003684	Function	Damaged DNA binding	IC	9590180
GO:0005515	Function	Protein binding	IPI	12419185, 12470659, 12607005, 15916964, 16377563, 17500065, 17612497, 18001824, 18001825, 18583988, 18678890, 19609304, 19683501, 19759395, 19804756, 20224574, 21108945, 22078559, 22157895, 22565321, 24534091, 24651726, 24981860, 25064736, 25558984, 25895060, 26869104, 27568553, 296
GO:0005634	Component	Nucleus	IDA	10888888
GO:0005654	Component	Nucleoplasm	TAS
GO:0005657	Component	Replication fork	IEA
GO:0005730	Component	Nucleolus	IDA	10888888
GO:0005829	Component	Cytosol	TAS
GO:0006260	Process	DNA replication	TAS
GO:0006302	Process	Double-strand break repair	IDA	9590181
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	TAS
GO:0007050	Process	Cell cycle arrest	TAS	9590181
GO:0007095	Process	Mitotic G2 DNA damage checkpoint	IBA	21873635
GO:0007095	Process	Mitotic G2 DNA damage checkpoint	IDA	11438675
GO:0008134	Function	Transcription factor binding	IPI	11486038
GO:0008283	Process	Cell population proliferation	IEA
GO:0016032	Process	Viral process	IEA
GO:0016605	Component	PML body	IDA	10811102, 12470659
GO:0030174	Process	Regulation of DNA-dependent DNA replication initiation	TAS	9590181
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	TAS	9590181
GO:0030870	Component	Mre11 complex	IBA	21873635
GO:0030870	Component	Mre11 complex	IDA	9590181, 19151086
GO:0030870	Component	Mre11 complex	TAS	27918544
GO:0031860	Process	Telomeric 3' overhang formation	IMP	16374507
GO:0031954	Process	Positive regulation of protein autophosphorylation	IDA	15790808
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	16374507
GO:0032508	Process	DNA duplex unwinding	IBA	21873635
GO:0032508	Process	DNA duplex unwinding	IMP	15790808
GO:0033674	Process	Positive regulation of kinase activity	IDA	15790808
GO:0035861	Component	Site of double-strand break	IDA	15916964
GO:0042405	Component	Nuclear inclusion body	IDA	12447371
GO:0042770	Process	Signal transduction in response to DNA damage	IBA	21873635
GO:0045190	Process	Isotype switching	IEA
GO:0047485	Function	Protein N-terminus binding	IPI	9590181
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0090656	Process	T-circle formation	IMP	27918544
GO:0090737	Process	Telomere maintenance via telomere trimming	IGI	27918544
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1904354	Process	Negative regulation of telomere capping	IMP	17694070

Other IDs

• MIM: 602667
• HGNC: 7652
• e!Ensembl: ENSG00000104320

Protein

• UniProt ID: O60934
• Protein name: Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1) (hNbs1)
• Protein function: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:10888888, PubMed:15616588, PubMed:18411307, PubMed:18583988, PubMed:18678890,
• PDB: 5WQD, 7SID, 8BAH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00498	FHA	24 → 100	FHA domain	Family
  PF16508	NIBRIN_BRCT_II	216 → 325	Second BRCT domain on Nijmegen syndrome breakage protein	Domain
  PF08599	Nbs1_C	683 → 746	DNA damage repair protein Nbs1	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous (PubMed:9590180). Expressed at high levels in testis (PubMed:9590180). {ECO:0000269|PubMed:9590180}.
• Sequence:

  MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQT
  DEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCL
  DVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEF
  LKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS
  AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQ
  GLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNT
  TTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNT
  LAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS
  ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSH
  AAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETN
  DTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFR
  SLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE
  EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR

• Sequence length: 754

Pathways

KEGG:

Homologous recombination
Cellular senescence

Reactome:

DNA Damage/Telomere Stress Induced Senescence
HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aplastic anemia	Aplastic Anemia	rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992, rs113993994, rs113993998, rs199422298, rs199422305, rs199422273, rs199422275, rs199422276, rs199422259, rs199422279, rs199422280, rs199422281, rs199422283, rs587780100, rs587781305, rs587781891, rs587781969, rs587782130, rs587782545, rs730881864, rs730881857, rs730881850, rs730881839, rs142301194, rs786201745, rs764884516, rs786202490, rs768378152, rs574673404, rs767215758, rs786205135, rs762664474, rs751161742, rs373730800, rs864622143, rs864622090, rs864622511, rs864622253, rs786201965, rs756363734, rs766044684, rs876659521, rs876659592, rs113993990, rs751247865, rs1057517262, rs1057516668, rs1057516611, rs1057516320, rs1057516772, rs931715719, rs767454740, rs1057519587, rs1060503483, rs1060503467, rs1064795816, rs1064793210, rs1131691842, rs772797192, rs751567476, rs780235686, rs1554562083, rs578092914, rs147035858, rs189650890, rs759232053, rs1554558613, rs1554567892, rs1554564297, rs1554558472, rs1554559083, rs1349928568, rs1178384498, rs1198614767, rs1554558449, rs1554568427, rs752858869, rs147462227, rs748513310, rs1238152597, rs760237820, rs1554562110, rs750375741, rs758708229, rs768849283, rs1563578540, rs1563526747, rs1563559078, rs772005832, rs1563539146, rs778306619, rs771475965, rs1586052851, rs1554559094, rs776571416, rs200430442, rs776299562, rs1584439050, rs1586075907, rs1586101154, rs1586059584, rs1586088924, rs1810540992, rs772411713, rs1812023981	11325820, 16415040, 15338273
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Breast cancer	Malignant neoplasm of breast, Breast Cancer, Familial	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	14684699, 11889050, 25613900, 10802669, 23765759
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615
Glioma	Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	28297620
Lymphoblastic leukemia	Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	15338273, 11325820
Leukemia	Acute leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Lissencephaly	Lissencephaly	rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489, rs121434490, rs104894779, rs104894780, rs104894781, rs122457137, rs104894782, rs56030372, rs104894786, rs113994203, rs113994200, rs113994198, rs113994202, rs281875328, rs281875329, rs387906840, rs756206942, rs749768828, rs397509412, rs398122369, rs587784484, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs576928842, rs587784265, rs587784260, rs587784262, rs587784272, rs587784285, rs369259961, rs587784250, rs587784252, rs587784253, rs587784257, rs587784256, rs587784258, rs587784259, rs587784261, rs587784263, rs587784264, rs587784266, rs587784267, rs587784268, rs587784269, rs200390886, rs587784270, rs587784271, rs587784273, rs587784274, rs587784275, rs587784276, rs587784277, rs587784278, rs587784281, rs587784279, rs587784280, rs587784282, rs587784284, rs587784286, rs587784287, rs587784289, rs587784291, rs587784290, rs587784292, rs587784293, rs587784294, rs587784235, rs587784236, rs587784237, rs587784238, rs587784239, rs587784240, rs587784241, rs587784242, rs587784244, rs587784243, rs587784245, rs587784247, rs587784248, rs587784249, rs587784251, rs587783592, rs587783590, rs587783589, rs587783568, rs587783558, rs104894784, rs587783534, rs587783519, rs794729199, rs797045005, rs797045177, rs797045178, rs797045061, rs797046071, rs797046073, rs797046072, rs797045529, rs797045866, rs797045857, rs797045858, rs797045859, rs797045861, rs797045863, rs797045864, rs797045865, rs797045867, rs797045868, rs797045869, rs797045870, rs797045871, rs797045872, rs1555527743, rs797045855, rs797045512, rs863224938, rs757725348, rs886039513, rs886041341, rs886043627, rs1057517696, rs1057517697, rs1057519417, rs754200057, rs1057517698, rs1057517843, rs1057520515, rs1064796460, rs1064793286, rs1064794568, rs1064796765, rs1064794223, rs1131691295, rs1555162507, rs1554126886, rs1555162294, rs1555162456, rs1456594953, rs1555526718, rs1555526733, rs1555527149, rs1556401744, rs1556401951, rs1555162325, rs1556405129, rs761786389, rs1555162323, rs1555526298, rs1555526309, rs1567559851, rs1565627513, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520, rs757604577, rs1565626928, rs1565627526, rs1565627727, rs1592260393, rs1565627777, rs1603423268, rs1592259391, rs2069271269, rs1942168488, rs1942171146, rs1942172759, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1942166930, rs1942187200
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Non-hodgkin lymphoma	Lymphoma, Non-Hodgkin	rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820
Medulloblastoma	Medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	28297620
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nicolaides baraitser syndrome	Nicolaides Baraitser syndrome	rs281875238, rs281875239, rs281875187, rs281875240, rs281875184, rs281875185, rs281875186, rs281875188, rs281875189, rs281875190, rs281875198, rs387907194, rs281875207, rs281875192, rs281875197, rs797045974, rs797045976, rs863224922, rs863224921, rs886041045, rs281875196, rs1057518414, rs1060499668, rs1554623112, rs1554624100, rs1569231336, rs1586721515, rs1586692551, rs1586660389	3857858
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393
Prostate cancer	Malignant neoplasm of prostate, Prostate cancer, familial, Familial prostate cancer	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	14973119, 25415046, 22864661
Rhabdomyosarcoma	Rhabdomyosarcoma	rs137854557, rs121909224, rs63751466, rs11540652, rs28934874, rs104894229, rs104894230, rs267606708, rs80357867, rs276174889, rs80359011, rs80358556, rs80359391, rs80357989, rs886037650, rs886037651, rs201744589, rs587780067, rs587781462, rs587782144, rs55863639, rs768638173, rs864622639, rs875989784, rs876657714, rs878855246, rs199474742, rs879253942, rs886037721, rs1057519989, rs750380279, rs1131691211, rs1202793339, rs1567611375	28297620

Unknown
Disease term	Disease name	Evidence	References	Source
Otitis media	Otitis Media			ClinVar
Breast Carcinoma	hereditary breast carcinoma			GenCC
Aplastic Anemia	idiopathic aplastic anemia			GenCC
Hypertension	Hypertension			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Spontaneous	Associate	27936167
Alternating hemiplegia of childhood	Associate	17693401
Arthritis Rheumatoid	Associate	19451263, 36835215
Ataxia Telangiectasia	Associate	11850399, 11981817, 14747472
Ataxia Telangiectasia Like Disorder	Associate	12966088, 15234984, 19409520, 32212377
ATR X syndrome	Associate	23329831
Biliary Tract Neoplasms	Associate	32012241
Bloom Syndrome	Associate	11916980, 14517203
Brain Neoplasms	Associate	30943920
Breast Neoplasms	Associate	12433983, 12679336, 16474176, 16620382, 17292821, 17526493, 17695489, 18701435, 19383352, 19523210, 20003265, 21599985, 21700777, 21799032, 22806884, 23190577, 23468639, 23613387, 23959396, 24075779, 24659671, 24884479, 24894818, 24928521, 25681308, 26787654, 28419251, 28727877, 28891274, 29779938, 30257646, 30799775, 30964716, 31206626, 31575519, 33471974, 33560870, 34299313, 34461861, 36232564, 36346689, 7819048, 9590180
Breast Neoplasms	Inhibit	24928521
Carcinogenesis	Associate	26402912
Carcinoma Basal Cell	Associate	30089731
Carcinoma Non Small Cell Lung	Associate	21647442, 22631660, 24166361
Carcinoma Ovarian Epithelial	Associate	26315354, 26584681, 28073364, 38192153
Carcinoma Pancreatic Ductal	Associate	28726808
Carcinoma Renal Cell	Stimulate	18768505
Carcinoma Renal Cell	Associate	18768505, 33062672
Carcinoma Signet Ring Cell	Associate	36779496
Carcinoma Small Cell	Associate	33632300
Cell Transformation Neoplastic	Associate	22078559
Chromosomal Instability with Tissue Specific Radiosensitivity	Associate	15234984
Chromosome Aberrations	Associate	12966088
Chromosome Breakage	Associate	18211700, 26584681, 36833239
Chromosome Fragility	Associate	11438675
Colonic Neoplasms	Associate	38143740
Colorectal Neoplasms	Associate	26186548, 27845421
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	33630411
Developmental Disabilities	Associate	16033915, 26068589
Disease	Associate	21599985
DNA Repair Deficiency Disorders	Associate	22864661
DNA Virus Infections	Associate	28631426
Drug Related Side Effects and Adverse Reactions	Associate	22982660, 28376765
Dystonic Disorders	Associate	19409520
Early onset ataxia with oculomotor apraxia and hypoalbuminemia	Associate	14532133, 22705791
Fanconi Anemia	Associate	15199173
Ganglioglioma	Associate	19813148
Genee Wiedemann syndrome	Associate	40243416
Genetic Diseases Inborn	Associate	19917125
Genomic Instability	Associate	14532133
Glioma	Associate	33953544
Gonadal Dysgenesis	Associate	34544220
Gonadal Dysgenesis 46 XY	Associate	34544220
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22186123, 24549055, 26976419, 33630411, 33646313
Hodgkin Disease	Associate	21374732
Hypogonadism	Associate	34544220
Hypoxia	Associate	25026297
Hypoxia	Inhibit	30943920
Immunologic Deficiency Syndromes	Associate	20378756, 29706645
Infections	Associate	18560558
Laryngeal Neoplasms	Associate	17894553, 24079363, 29433451
Leiomyoma	Associate	30478352
Leukemia	Associate	24093751
Leukemia Myeloid Acute	Associate	24093751, 7819048
Leukemia Prolymphocytic T Cell	Associate	19278963
Leukemia Promyelocytic Acute	Associate	17693401
Lichen Planus	Associate	37006067
Liver Cirrhosis Biliary	Associate	25681308
Liver Neoplasms	Associate	22070649
Lung Diseases	Associate	20478923
Lung Neoplasms	Associate	20478923, 24166361
Lymphoma	Associate	19917125, 22864661
Lymphoma B Cell Marginal Zone	Associate	19917125
Lymphoma Large B Cell Diffuse	Associate	19917125
Lymphoma Non Hodgkin	Associate	19917125, 22430443, 25010664, 33488600
Mandibulofacial Dysostosis	Associate	25064736, 25512513
Melanoma	Associate	15816840, 35688842
Meningioma	Associate	20150366
Microcephaly	Associate	16033915, 26068589, 28790359, 29706645, 35269426
Microsatellite Instability	Associate	36833239
Mitochondrial Diseases	Associate	26940879
Mouth Diseases	Associate	37006067
Mouth Neoplasms	Associate	37006067
Multiple Myeloma	Stimulate	26366868
Muscle Neoplasms	Associate	40571318
Nasopharyngeal Carcinoma	Associate	30638177
Neoplasm Metastasis	Associate	20175780, 25681308, 27270314
Neoplasm Metastasis	Stimulate	29779938
Neoplasms	Associate	10848790, 16033915, 16188882, 16474176, 17693401, 17695489, 17894553, 18949738, 19383352, 19804755, 20478923, 21501031, 22070649, 22851427, 22864661, 22983061, 24595002, 26152289, 26186548, 26402912, 27621404, 27936167, 28790359, 29053726, 29433451, 29706645, 30176843, 30590007, 31601699, 31682005, 31794323, 31937788, 32012241, 32957448, 33630411, 36346689, 36806726
Neoplasms Multiple Primary	Associate	17894553
Nerve Degeneration	Associate	17706468
Neurofibromatosis Noonan syndrome	Associate	11438675
Nijmegen Breakage Syndrome	Associate	10346816, 10848790, 10913111, 11238951, 11427422, 11438675, 11850399, 11981817, 12419185, 12679336, 12966088, 14532133, 14745549, 15026416, 15175262, 15234984, 15733840, 16033915, 16188882, 16478990, 17524422, 19409520, 19804755, 20378756, 21208456, 21227926, 22325354, 22851427, 22864661, 22941933, 23468639, 23762398, 24928521, 25119968, 25214013, 25485873, 25677497, 26940879, 26987925, 26990569, 27936167, 28000062, 28183292, 28790359, 29706645, 30616142, 32212377, 33488600, 34544220, 35269426, 36806726, 9590180, 9705271
Nijmegen Breakage Syndrome	Inhibit	27545893
Nijmegen Breakage Syndrome Like Disorder	Associate	19409520
Non Muscle Invasive Bladder Neoplasms	Associate	35833951, 40571318
Oral Submucous Fibrosis	Associate	37006067
Ovarian Neoplasms	Associate	22864661, 24240112, 26315354, 26718727, 33560870, 34608183, 37013556, 38192153
Pancreatic Neoplasms	Associate	26483394, 27488870, 36346689
Personality Disorders	Associate	23149842, 30777372
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24093751
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	7819048
Primary Ovarian Insufficiency	Associate	29706645
Progeroid syndrome neonatal	Associate	25214013
Prostate cancer familial	Associate	22864661
Prostate Cancer Hereditary 7	Associate	38458890
Prostatic Neoplasms	Associate	22186123, 22864661, 23149842, 25415046, 29915322, 30590007, 30636012, 30777372, 35638715, 35666082, 36199143, 38014910, 38458890
Radiation Pneumonitis	Associate	21647442
Rectal Neoplasms	Associate	30176843
Severe Combined Immunodeficiency	Associate	25677497
Sleep Deprivation	Associate	26336034, 26940879
Squamous Cell Carcinoma of Head and Neck	Associate	20175780, 26152289, 30046007
Stomach Neoplasms	Associate	25542228, 26402912, 27270314
Stomatitis	Associate	24594932
Thyroid Cancer Papillary	Associate	28402931
Thyroid Carcinoma Anaplastic	Associate	21501031
Triple Negative Breast Neoplasms	Associate	33090711
Urinary Bladder Neoplasms	Associate	20478923, 40571318
Uterine Cervical Neoplasms	Associate	18949738
Werner Syndrome	Associate	15026416, 15733840