MUTYH (mutY DNA glycosylase)

Gene

• Entrez ID: 4595
• Gene name: MutY DNA glycosylase
• Gene symbol: MUTYH
• Synonyms (NCBI Gene): MYH
• Chromosome: 1
• Chromosome location: 1p34.1
• Summary: This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively d

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3219488	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs34126013	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs34612342	T>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs35352891	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs36053993	C>A,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs74318065	C>G,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs75321043	C>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs77542170	T>C	Pathogenic-likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs79777494	G>A	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs121908380	G>A,T	Pathogenic, benign, benign-likely-benign	Synonymous variant, coding sequence variant, stop gained, 5 prime UTR variant, intron variant, non coding transcript variant
rs121908381	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs121908382	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121908383	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs138089183	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs138775799	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs140156029	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs140288388	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice donor variant
rs140342925	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs141679570	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs143353451	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs144079536	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs144616312	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs146331482	G>-,GGG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs147718169	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs149866955	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs150792276	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs199989617	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant
rs200165598	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs200495564	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs200844166	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs201163858	A>C,G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, initiator codon variant, missense variant, coding sequence variant, 5 prime UTR variant
rs369410616	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs369677603	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs370124822	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs372267274	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant, 5 prime UTR variant, non coding transcript variant, intron variant
rs372673338	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs374950566	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs375084663	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant, 5 prime UTR variant, missense variant
rs375526246	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant, intron variant
rs376561094	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs376600220	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	5 prime UTR variant, intron variant, non coding transcript variant
rs376790729	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs529008617	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs558173961	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs558707786	T>C	Uncertain-significance, likely-pathogenic	5 prime UTR variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs560905645	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs564930066	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs587778536	G>-	Pathogenic, likely-pathogenic, not-provided	Coding sequence variant, frameshift variant, non coding transcript variant
rs587778541	CCT>-	Not-provided, pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs587780078	->CC	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587780082	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587780083	CT>GC	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587780086	G>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant, non coding transcript variant
rs587780088	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs587780742	T>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs587780749	C>A,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587780751	T>G	Uncertain-significance, pathogenic	Intron variant
rs587781295	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs587781337	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs587781338	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587781628	T>C	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant
rs587781704	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs587781864	C>T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs587782066	T>C	Uncertain-significance, likely-pathogenic	Splice acceptor variant, intron variant
rs587782228	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs587782263	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587782716	GC>CT	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587782730	A>C,G	Likely-pathogenic	Splice donor variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs587782885	G>A,C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs587783057	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs730881832	A>T	Uncertain-significance, likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs730881833	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730881834	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs730881838	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs745910470	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs745921592	C>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs746449748	C>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, splice acceptor variant, intron variant, coding sequence variant, 5 prime UTR variant
rs747993448	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs748170941	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Non coding transcript variant, stop gained, missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs750592289	G>A	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs757672024	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs758377868	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs761468459	C>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs761763725	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs761840203	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs762307622	C>A,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, intron variant, stop gained, non coding transcript variant, 5 prime UTR variant, missense variant
rs765123255	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs765339120	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs766420907	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs766553845	TCCGAGCTCCCTCCT>-	Likely-pathogenic, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, splice donor variant
rs767717597	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, 5 prime UTR variant
rs768130289	GG>-,G,GGG	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs768386527	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs769237459	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs771290019	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs773087549	G>A,T	Uncertain-significance, likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs774607582	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs774780021	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, non coding transcript variant, synonymous variant, 5 prime UTR variant
rs776362892	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs776487884	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs780029247	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs780747266	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs781222233	TATTTCCCCTACC>-	Pathogenic-likely-pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, 5 prime UTR variant
rs786202133	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs786203115	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs786203161	T>C,G	Likely-pathogenic	Splice acceptor variant, non coding transcript variant, 5 prime UTR variant
rs786203213	C>-	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, initiator codon variant, frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs863224452	T>C	Likely-pathogenic	Splice acceptor variant, intron variant, non coding transcript variant, 5 prime UTR variant
rs863224501	TCACGGACGGG>-	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant, non coding transcript variant
rs863224502	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs863224698	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, non coding transcript variant, 5 prime UTR variant
rs864621967	AGTGCCT>-	Likely-pathogenic	Splice donor variant, coding sequence variant, intron variant, non coding transcript variant
rs864622394	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs864622450	T>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs869312771	CAGAGCTCTCCTCCCTGGG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs876659414	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs876659420	C>A	Likely-pathogenic	Splice donor variant
rs876659625	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs876659676	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876660092	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant
rs876660190	->ATCCAT	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, inframe insertion, non coding transcript variant
rs876660774	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs876660787	T>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs876660837	C>A	Likely-pathogenic	Splice acceptor variant
rs878854186	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs878854189	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs878854191	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, non coding transcript variant, 5 prime UTR variant
rs878854193	C>A	Likely-pathogenic	Splice donor variant
rs879254257	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs886039606	GCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGGCCT>-	Pathogenic	Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant
rs888691362	C>T	Pathogenic, likely-pathogenic	Stop gained, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs932830392	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, stop gained
rs1057517456	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057517457	GCCAGCCCAG>-	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057517459	C>T	Likely-pathogenic	Splice acceptor variant
rs1057517765	T>C,G	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057520660	C>G,T	Likely-pathogenic, pathogenic	5 prime UTR variant, intron variant, splice acceptor variant, non coding transcript variant
rs1060501321	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1060501324	C>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1060501325	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1060501333	A>C	Likely-pathogenic	Splice donor variant
rs1060501335	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060501336	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1060501346	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060504205	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1064793197	GTGCTA>AGCAGCTG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064793198	A>C	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1064795219	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064795480	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064796630	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1114167685	A>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1306473047	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1338038953	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1383826978	T>C	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs1437789978	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1553123017	->AC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553124893	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125075	TG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125100	->T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125243	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125622	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125677	GGCCCAGCCC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125766	TTC>G	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553125914	->TC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553126848	GCTCCGAGGGAGGCAGGCACAGG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553127514	CT>-	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant
rs1553127659	G>A,C	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1553127825	A>CT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553128663	T>C	Likely-pathogenic	Splice acceptor variant
rs1553128712	C>-	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant, 5 prime UTR variant
rs1553128813	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1553129062	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1553129349	C>-	Likely-pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129521	A>C	Likely-pathogenic	Intron variant, splice donor variant, non coding transcript variant, 5 prime UTR variant
rs1553129638	G>-	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129652	->TGACCTCTGAGACC	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129676	C>-	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553129862	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, initiator codon variant, 5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, missense variant
rs1553129892	C>A,T	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1553130042	C>A,T	Likely-pathogenic	Intron variant, splice donor variant
rs1553130185	C>T	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1557451154	ATACAGGT>TGGGCTGTTGG	Pathogenic	Inframe indel, coding sequence variant, non coding transcript variant
rs1557474906	C>T	Likely-pathogenic	Splice acceptor variant
rs1557474961	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1557485553	A>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1557486313	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant, non coding transcript variant
rs1557487793	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant, non coding transcript variant
rs1570314279	->GGAG	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570346782	CT>-	Likely-pathogenic	Splice acceptor variant
rs1570366181	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570373385	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570376147	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570406302	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1570409700	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1570415363	TGTAGCGCCCCACGCCAGGCAGGAGCTG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1570423722	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs1570428456	GTA>TT	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1570433022	G>C	Pathogenic	Intron variant, 5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant
rs1570443585	->T	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1570465624	CTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCAT>G	Pathogenic	Non coding transcript variant, intron variant, splice acceptor variant, 5 prime UTR variant, initiator codon variant, coding sequence variant
rs1570467133	T>C	Pathogenic	5 prime UTR variant, initiator codon variant, missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT640343	hsa-miR-4637	HITS-CLIP	23824327
MIRT640342	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT640341	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT640340	hsa-miR-4518	HITS-CLIP	23824327
MIRT640339	hsa-miR-4320	HITS-CLIP	23824327
MIRT640343	hsa-miR-4637	HITS-CLIP	23824327
MIRT640342	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT640341	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT640340	hsa-miR-4518	HITS-CLIP	23824327
MIRT640339	hsa-miR-4320	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IBA
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IEA
GO:0000701	Function	Purine-specific mismatch base pair DNA N-glycosylase activity	IMP	20848659
GO:0003677	Function	DNA binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	11801590, 25416956
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	7823963
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	8682794
GO:0006284	Process	Base-excision repair	IBA
GO:0006284	Process	Base-excision repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	TAS	7823963
GO:0006950	Process	Response to stress	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019104	Function	DNA N-glycosylase activity	IEA
GO:0019104	Function	DNA N-glycosylase activity	TAS
GO:0032357	Function	Oxidized purine DNA binding	IBA
GO:0032405	Function	MutLalpha complex binding	IDA	11801590
GO:0032406	Function	MutLbeta complex binding	IDA	11801590
GO:0032407	Function	MutSalpha complex binding	IDA	11801590
GO:0032408	Function	MutSbeta complex binding	IDA	11801590
GO:0034039	Function	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity	IBA
GO:0035485	Function	Adenine/guanine mispair binding	IBA
GO:0045007	Process	Depurination	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0060546	Process	Negative regulation of necroptotic process	IEA

Other IDs

• MIM: 604933
• HGNC: 7527
• e!Ensembl: ENSG00000132781

Protein

• UniProt ID: Q9UIF7
• Protein name: Adenine DNA glycosylase (EC 3.2.2.31) (MutY homolog) (hMYH)
• Protein function: Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities. {ECO:0000269|PubMed:10684930, ECO
• PDB: 1X51, 3N5N, 8FAY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00730	HhH-GPD	129 → 265	HhH-GPD superfamily base excision DNA repair protein	Domain
  PF00633	HHH	193 → 223	Helix-hairpin-helix motif	Motif
  PF14815	NUDIX_4	370 → 493	NUDIX domain	Domain

• Sequence:

  MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPG
  APAGLARQPEEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDL
  DRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRG
  RRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVL
  CRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVE
  SLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKAS
  RKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQE
  LQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHT
  AAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHS
  LNSAAQ

• Sequence length: 546

Pathways

KEGG:

Base excision repair

Reactome:

Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Displacement of DNA glycosylase by APEX1
Defective MUTYH substrate binding

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
B lymphoblastic leukemia lymphoma, no ICD-O subtype	Pathogenic	rs529008617	RCV000722033
Breast carcinoma	Likely pathogenic; Pathogenic	rs587778541, rs140342925, rs587783057, rs374950566, rs36053993, rs1645259682	RCV001554326 RCV001262379 RCV001572626 RCV001554252 RCV001574076 RCV001554307
Carcinoma of colon	Likely pathogenic; Pathogenic	rs587780078, rs587780088, rs587778536, rs587780751, rs140342925, rs587781628, rs529008617, rs587782885, rs587783057, rs374950566, rs765123255, rs34612342, rs36053993, rs121908380, rs121908381, rs876659676, rs762307622, rs372267274, rs761468459	RCV000144636 RCV000144639 RCV000144632 RCV001353438 RCV001353906 RCV000172819 RCV000144633 RCV000144630 RCV000144635 RCV001353603 RCV001353971 RCV000144631 RCV000144637 RCV001353649 RCV001353602 RCV001355443 RCV001353489 RCV001353991 RCV001353713
Clear cell carcinoma of kidney	Likely pathogenic; Pathogenic	rs587782228	RCV005893699
Colon cancer	Likely pathogenic; Pathogenic	rs587780751, rs587781864, rs36053993	RCV000626760 RCV004698338 RCV001580144
Colonic neoplasm	Likely pathogenic; Pathogenic	rs781222233	RCV001579292
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas	Likely pathogenic; Pathogenic	rs36053993	RCV000501239
Colorectal cancer	Likely pathogenic; Pathogenic	rs587778536, rs34612342, rs1644340673	RCV006249592 RCV006249548 RCV001293835
Colorectal polyposis	Likely pathogenic; Pathogenic	rs587778541	RCV001610395
Diffuse midline glioma, H3 K27-altered	Likely pathogenic; Pathogenic	rs140342925, rs36053993	RCV003313780 RCV004785246
Endometrial cancer	Likely pathogenic; Pathogenic	rs36053993	RCV000005615
Endometrial carcinoma	Likely pathogenic; Pathogenic	rs34612342	RCV000005613
Familial adenomatous polyposis 2	Pathogenic; Likely pathogenic	rs1645038575, rs2149088820, rs2149090006, rs876660837, rs2149136521, rs1361763237, rs1423002555, rs2149103038, rs2149130255, rs2149137694, rs761468459, rs2524090518, rs2149152823, rs2149164388, rs1553129676, rs1645377813, rs2149134563, rs876659420, rs587780078, rs587780082, rs587778541, rs587780088, rs2149151527, rs774798236, rs2149112658, rs2149112377, rs2149176927, rs2149143211, rs2149102703, rs587778536, rs2149102678, rs2149133294, rs587780749, rs587780751, rs2149129901, rs769152217, rs2149175646, rs2149166157, rs2149120039, rs121908380, rs2149119265, rs2149138656, rs2149142768, rs1645098684, rs587781295, rs138775799, rs2149160869, rs587781337, rs587781338, rs140342925, rs587781628, rs587781704, rs1557472384, rs587781864, rs529008617, rs587782730, rs587782885, rs587783057, rs2149112121, rs2149164805, rs2149161607, rs1645370714, rs730881833, rs143353451, rs730881832, rs2524216149, rs892204813, rs864621967, rs768130289, rs374950566, rs786203115, rs34126013, rs776487884, rs747993448, rs786203161, rs777184451, rs2524361370, rs372267274, rs786203213, rs765123255, rs748170941, rs2524360107, rs2524017181, rs1644818073, rs2524274573, rs1300812494, rs2523843503, rs2523846596, rs34612342, rs36053993, rs146331482, rs121908381, rs2524157635, rs2523969766, rs2524263141, rs2524286564, rs2523954069, rs2524698721, rs863224502, rs863224501, rs863224452, rs2149158986, rs2524351874, rs1383826978, rs2523915561, rs2524012540, rs2524220280, rs2524273974, rs2524353808, rs2524050386, rs2524243658, rs2523914698, rs2524008424, rs587782228, rs876660774, rs876659414, rs876659676, rs376561094, rs762307622, rs876660787, rs876660190, rs878854186, rs376790729, rs878854193, rs878854189, rs2524243548, rs773087549, rs886039606, rs2523923671, rs2524271890, rs2523921332, rs886046367, rs1060501333, rs1645259682, rs2149164413, rs1553126007, rs2524284138, rs2524001191, rs2149142613, rs1423565685, rs2524122940, rs2524016687, rs2523998901, rs2149128878, rs2524151547, rs2524198581, rs2524023943, rs2524010030, rs2149140738, rs1644799870, rs2523744619, rs1645092023, rs2149175937, rs2523990767, rs2524158214, rs2524072936, rs1218453896, rs2524154093, rs2149135116, rs2523849246, rs1644777520, rs1553136984, rs2523972711, rs1057517459, rs1057517456, rs1057517457, rs1057520660, rs1060501324, rs1553129652, rs745921592, rs1060501321, rs766420907, rs781222233, rs1553123017, rs1060501325, rs1060501335, rs1060501336, rs1553125914, rs1553124893, rs1064795480, rs1064793197, rs1064796630, rs746449748, rs1064795596, rs769237459, rs1553125243, rs1553129638, rs761763725, rs1553125075, rs1553125622, rs1553127514, rs776362892, rs1553129521, rs1553128663, rs370124822, rs199989617, rs1553130042, rs1553130185, rs767402084, rs1553129892, rs1553129062, rs200495564, rs1553126848, rs1553127825, rs1553125677, rs1553129349, rs1553128813, rs768386527, rs1553125100, rs1553125766, rs558173961, rs1557485553, rs1338038953, rs1557474906, rs1557451154, rs888691362, rs1557486313, rs1437789978, rs1570376147, rs1570406302, rs1570415363, rs1570443585, rs1570467133, rs1570465624, rs1570346782, rs1306473047, rs745910470, rs1553127659, rs1570423722, rs1570433022, rs1645371113, rs1645561773, rs1644886403, rs1645192561, rs774968843, rs1645057147, rs1645164432, rs1645261795, rs1553123105	RCV001350437 RCV001378289 RCV001378383 RCV001379351 RCV001378451 RCV001378738 RCV001377842 RCV001384775 RCV001385504 RCV001380116 RCV001381417 RCV003504632 RCV001382145 RCV001390871 RCV001389598 RCV001382773 RCV001532887 RCV001782472 RCV000191935 RCV000465024 RCV000123145 RCV000206117 RCV001874411 RCV001931690 RCV001999028 RCV002048940 RCV001867251 RCV001939271 RCV001998879 RCV000196379 RCV002010543 RCV002044114 RCV000123154 RCV000123158 RCV001907649 RCV001909873 RCV001887259 RCV002007199 RCV002007497 RCV001942189 RCV001941951 RCV001883015 RCV001958674 RCV001959077 RCV001068416 RCV000471769 RCV002047639 RCV000503838 RCV000527702 RCV000196778 RCV000338621 RCV000640397 RCV001986174 RCV000456187 RCV000191934 RCV000530394 RCV000500909 RCV000410310 RCV003101417 RCV003505197 RCV003464415 RCV002280919 RCV000191933 RCV000200700 RCV000701601 RCV003096380 RCV003096813 RCV001781503 RCV000688652 RCV000456980 RCV000198325 RCV000369240 RCV000502295 RCV000229525 RCV000694454 RCV000226581 RCV005097213 RCV000469315 RCV000778982 RCV000230772 RCV000196257 RCV004054915 RCV004572419 RCV003120990 RCV005098423 RCV003103161 RCV002659405 RCV002725584 RCV000005612 RCV000005614 RCV000005616 RCV000005617 RCV000005618 RCV002796286 RCV002898965 RCV002871402 RCV002881053 RCV002867355 RCV002917663 RCV000198593 RCV000196963 RCV000196093 RCV000198184 RCV003033736 RCV003005744 RCV002991644 RCV003041806 RCV003022695 RCV003045823 RCV003037560 RCV003049772 RCV003034959 RCV003027746 RCV003039224 RCV003056413 RCV000204688 RCV001242171 RCV001386175 RCV003462478 RCV000536194 RCV000554059 RCV000411443 RCV000707329 RCV000461918 RCV000763342 RCV000227086 RCV000234544 RCV000230698 RCV000234687 RCV003459799 RCV001222430 RCV001206311 RCV003316933 RCV003331739 RCV003334763 RCV000286237 RCV003470280 RCV003463076 RCV003470281 RCV003463077 RCV003463078 RCV003463079 RCV003450436 RCV003450437 RCV003450438 RCV003450600 RCV003505494 RCV003505528 RCV003505437 RCV003505993 RCV003506022 RCV003504593 RCV003504825 RCV003505000 RCV003613668 RCV003613775 RCV003614589 RCV003613964 RCV003614888 RCV003615141 RCV003811750 RCV003828555 RCV004013474 RCV004013683 RCV004012820 RCV004011859 RCV004011860 RCV004012144 RCV004015174 RCV004015254 RCV004015479 RCV004018349 RCV000410065 RCV000409401 RCV000412332 RCV000553473 RCV000476649 RCV000469962 RCV000474499 RCV000463536 RCV000473747 RCV000475342 RCV000462491 RCV000465367 RCV000459179 RCV000465640 RCV000459274 RCV000465018 RCV000460168 RCV000477814 RCV001851135 RCV000693940 RCV000792421 RCV000707275 RCV000801139 RCV001209233 RCV000499908 RCV000640346 RCV000550116 RCV000548215 RCV000532016 RCV001377116 RCV001858376 RCV001208903 RCV001387801 RCV001853780 RCV000707104 RCV003614048 RCV000576504 RCV000702233 RCV001853781 RCV000697243 RCV001853721 RCV001853782 RCV000576676 RCV001227829 RCV001387744 RCV001206070 RCV000034678 RCV000640393 RCV005208591 RCV000640364 RCV003140050 RCV000669566 RCV000671051 RCV000673895 RCV000667493 RCV000687716 RCV000690384 RCV000699792 RCV000685563 RCV000705838 RCV000767387 RCV000767386 RCV001206801 RCV001385505 RCV000810512 RCV000821385 RCV000794479 RCV000819711 RCV000814319 RCV000794526 RCV000803300 RCV000817807 RCV000800982 RCV001218539 RCV000986306 RCV002549306 RCV001860903 RCV003461398 RCV005093220 RCV001052961 RCV001065387 RCV001059766 RCV001040726 RCV003462655 RCV003142114 RCV001218876 RCV001210519 RCV001212901 RCV001207104 RCV001225731 RCV001298566
Familial cancer of breast	Likely pathogenic; Pathogenic	rs761468459	RCV005623332
Familial colorectal cancer	Likely pathogenic; Pathogenic	rs587778536, rs587783057, rs36053993, rs121908380, rs200495564	RCV000626290 RCV002221498 RCV002051775 RCV000661934 RCV000722047
Familial colorectal cancer type X	Pathogenic	rs143353451	RCV005359377
Gastric cancer	Likely pathogenic; Pathogenic	rs587780078, rs587780082, rs587778541, rs587780088, rs587778536, rs587780749, rs587780751, rs138775799, rs140342925, rs587781628, rs587781704, rs529008617, rs587782885, rs587783057, rs730881833, rs143353451, rs730881832, rs786203115, rs34126013, rs765123255, rs748170941, rs2524273545, rs2524274573, rs2524697578, rs182537898, rs563885946, rs1644908718, rs1300812494, rs1270853129, rs1553136984, rs34612342, rs36053993, rs121908380, rs121908381, rs121908383, rs587782228, rs762307622, rs876660190, rs769237459, rs199989617, rs200495564, rs1570406302	RCV005394390 RCV002498495 RCV002498496 RCV003162540 RCV005016419 RCV005025203 RCV005016425 RCV005394466 RCV005016430 RCV002478389 RCV005025210 RCV002492514 RCV003162593 RCV003162600 RCV003162678 RCV002478487 RCV005394560 RCV003162709 RCV005025256 RCV003162684 RCV005025253 RCV003164604 RCV003164648 RCV003164649 RCV003164707 RCV003164708 RCV003164709 RCV003164711 RCV003164712 RCV003164713 RCV001554314 RCV005016243 RCV002496270 RCV002496271 RCV000005620 RCV002503805 RCV002500727 RCV005025362 RCV003159665 RCV005027666 RCV002496519 RCV003166117
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs587778541, rs2149120608	RCV005638429 RCV001374514
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2149130255, rs761468459, rs2149152823, rs587780078, rs587780082, rs587778541, rs587780088, rs2149151527, rs774798236, rs2149112377, rs2149102703, rs587778536, rs587780749, rs587780751, rs2149119265, rs1645098684, rs587781295, rs138775799, rs587781337, rs587781338, rs140342925, rs587781628, rs587781704, rs587781864, rs529008617, rs587782730, rs587782885, rs587783057, rs2149126191, rs2149112121, rs2149164805, rs2149161607, rs2524250418, rs730881833, rs143353451, rs730881832, rs2524216149, rs1057520660, rs2524181970, rs2524356477, rs892204813, rs2524146899, rs864621967, rs2523964937, rs587781529, rs768130289, rs374950566, rs786203115, rs34126013, rs776487884, rs747993448, rs786203161, rs777184451, rs2524361370, rs372267274, rs786203213, rs765123255, rs748170941, rs2524360107, rs2524017181, rs2523841162, rs773720534, rs1644818073, rs2523921174, rs2524357772, rs2149176119, rs2524283822, rs1570443687, rs2523996953, rs2524274573, rs1300812494, rs34612342, rs36053993, rs121908380, rs121908381, rs2523954069, rs863224502, rs863224501, rs863224452, rs2524351874, rs587782228, rs869312771, rs876659420, rs876660774, rs876659414, rs876660837, rs876659676, rs876660729, rs376561094, rs762307622, rs876660787, rs876660190, rs876659625, rs376790729, rs878854193, rs1315680518, rs1557481282, rs2524243548, rs878854183, rs2524112772, rs2524051238, rs2524275031, rs2523957520, rs2523906210, rs1309501452, rs2523911797, rs2524260307, rs2524246510, rs2149172097, rs2149164413, rs2524284138, rs1423565685, rs2524122940, rs2523991314, rs2524271761, rs1644799870, rs1645092023, rs2149175937, rs2149136521, rs2523849246, rs2524276243, rs776719541, rs2524258876, rs2524219849, rs1427656678, rs1057517459, rs1057517456, rs1057517457, rs1060501324, rs1553129652, rs745921592, rs1060501321, rs766420907, rs781222233, rs1060501325, rs1060501335, rs1060501336, rs1064793197, rs1064796630, rs746449748, rs1064795596, rs1114167685, rs769237459, rs1553125243, rs761763725, rs1553125075, rs1553125622, rs1553126320, rs1553127514, rs776362892, rs1553129521, rs1553128663, rs1553129676, rs1553128712, rs1553128929, rs370124822, rs199989617, rs1553130042, rs1553130185, rs767402084, rs1553136984, rs1553129892, rs1553129062, rs200495564, rs1553127825, rs1553125677, rs1553128813, rs768386527, rs1383826978, rs1557485553, rs1338038953, rs888691362, rs1557486313, rs1437789978, rs1570415363, rs1570443585, rs1570467133, rs1570346782, rs1306473047, rs1570364144, rs1570366181, rs1570373385, rs1570373782, rs745910470, rs1570382822, rs1553127659, rs149866955, rs1570408704, rs1570409700, rs1570423722, rs1570423912, rs1570428456, rs1570433022, rs1645371113, rs1645561773, rs1645192561, rs1645571595, rs1645259682, rs774968843, rs1645261795	RCV001523926 RCV005372689 RCV004639611 RCV000115749 RCV000115753 RCV000115758 RCV000447652 RCV002359317 RCV002361270 RCV005375031 RCV003355734 RCV000164291 RCV000131615 RCV000129539 RCV004044366 RCV005674882 RCV000128998 RCV000129018 RCV000129098 RCV000129103 RCV000129105 RCV000129730 RCV000129874 RCV000130180 RCV000131914 RCV000132227 RCV000132522 RCV000569738 RCV002255942 RCV002255943 RCV002257260 RCV002255945 RCV002459033 RCV000221854 RCV000214896 RCV000160751 RCV002342519 RCV002330413 RCV002338253 RCV002346830 RCV002345006 RCV002369142 RCV000215481 RCV002364522 RCV002391603 RCV000165254 RCV000164625 RCV000166279 RCV000164664 RCV000164298 RCV000166998 RCV000166350 RCV000165108 RCV002430325 RCV000166470 RCV000166426 RCV000162761 RCV000164326 RCV002376327 RCV002389984 RCV002392282 RCV002394968 RCV002385722 RCV002383636 RCV002446010 RCV002419778 RCV002424380 RCV002439359 RCV002444121 RCV003164647 RCV004946008 RCV000115766 RCV000115748 RCV000163049 RCV000222872 RCV003585307 RCV001184572 RCV001010324 RCV002354561 RCV005439089 RCV000215469 RCV000210110 RCV000223520 RCV000219128 RCV000217438 RCV000218775 RCV000216419 RCV000219744 RCV000223123 RCV000213856 RCV000216618 RCV000215777 RCV000219018 RCV000221410 RCV000571910 RCV002372265 RCV003176381 RCV003182801 RCV003182814 RCV003182815 RCV003182818 RCV003182821 RCV003182823 RCV003311340 RCV003278601 RCV003311344 RCV003278615 RCV003344144 RCV003350700 RCV003360878 RCV003350701 RCV005402034 RCV005675204 RCV005403314 RCV004364751 RCV003585649 RCV003585658 RCV003585665 RCV006411896 RCV005387230 RCV005675290 RCV004366738 RCV004943288 RCV004523667 RCV004523669 RCV004523670 RCV004523673 RCV004523686 RCV002392934 RCV001176292 RCV000569402 RCV001022814 RCV001017073 RCV005443071 RCV000571018 RCV003352871 RCV000773657 RCV000580373 RCV001010733 RCV000771347 RCV002379435 RCV002374880 RCV001025763 RCV000493987 RCV003168963 RCV000491171 RCV000777643 RCV000570778 RCV000570640 RCV001019554 RCV000561817 RCV000568119 RCV000570979 RCV000564810 RCV000570829 RCV000567036 RCV000561898 RCV000573409 RCV000568953 RCV000561565 RCV000570847 RCV000567080 RCV000571337 RCV000571879 RCV000569145 RCV000569246 RCV000777015 RCV000582433 RCV000582105 RCV002341499 RCV000129829 RCV002420742 RCV003352961 RCV002343420 RCV000773209 RCV001178888 RCV001020006 RCV004026201 RCV002386286 RCV000776071 RCV000777549 RCV006406754 RCV005672491 RCV002433972 RCV002332595 RCV002390669 RCV002346192 RCV001011521 RCV001011237 RCV001010634 RCV001010620 RCV001009972 RCV001009931 RCV001018313 RCV001027296 RCV001026256 RCV001025999 RCV001023769 RCV001023690 RCV001022938 RCV001022500 RCV004649433 RCV001182520 RCV001185714 RCV001183600 RCV001177178 RCV001177835 RCV001190400 RCV005384981 RCV002339609
Inherited polyposis and early onset colorectal cancer - germline testing	Likely pathogenic; Pathogenic	rs34612342, rs36053993	RCV005055057 RCV004808548
Melanoma	Likely pathogenic	rs2149136521	RCV005912606
MUTYH-related disorder	Likely pathogenic; Pathogenic	rs587780078, rs587778536, rs587780751, rs587781337, rs140342925, rs143353451, rs34612342, rs36053993, rs121908381, rs587782228, rs376790729, rs769237459, rs888691362	RCV004542819 RCV004530025 RCV004542929 RCV004532544 RCV004532545 RCV004535046 RCV004528083 RCV004528084 RCV003335015 RCV004530223 RCV004532861 RCV004740303 RCV004723164
Neoplasm of stomach	Likely pathogenic; Pathogenic	rs587780088, rs140342925, rs36053993, rs372267274, rs1553125914	RCV000763343 RCV000515198 RCV000477907 RCV000763342 RCV000477814
Ovarian cancer	Likely pathogenic; Pathogenic	rs747993448, rs121908380	RCV003153454 RCV006249186
Ovarian carcinoma	Likely pathogenic; Pathogenic	rs36053993	RCV001262769
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2524243548	RCV005931277
Pilomatrixoma	Likely pathogenic; Pathogenic	rs587780088, rs587780749, rs140342925, rs747993448, rs36053993, rs372267274	RCV000763343 RCV001292933 RCV000515198 RCV002272151 RCV000515320 RCV000763342
Sarcoma	Likely pathogenic; Pathogenic	rs587780751	RCV005890500
Small intestine carcinoid	Likely pathogenic; Pathogenic	rs36053993	RCV000493920
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1553123105	RCV005910956

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Conflicting classifications of pathogenicity	rs77542170	RCV005888948
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs77542170	RCV005888951
Familial adenomatous polyposis 1	Uncertain significance	rs200872702	RCV004800291
Familial multiple polyposis syndrome	Conflicting classifications of pathogenicity; Benign; Likely benign	rs779997419, rs140118273, rs3219489	RCV001526816 RCV001270289 RCV001270291
Familial pancreatic carcinoma	Uncertain significance	rs767402084	RCV005925557
Hepatoblastoma	Uncertain significance	rs2149150096	RCV001843914
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs876660715, rs75321043, rs77542170	RCV005895054 RCV005888943 RCV005888946
Hereditary cancer	Conflicting classifications of pathogenicity	rs3219494, rs150792276, rs138089183	RCV003492527 RCV003492335 RCV003492336
Lymphoma	Conflicting classifications of pathogenicity	rs587781284	RCV005891714
Lynch syndrome 1	Conflicting classifications of pathogenicity	rs786201772	RCV002463653
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs77542170	RCV005888949
Malignant tumor of breast	Benign; Likely benign; Uncertain significance	rs150269172, rs786202133	RCV001356644 RCV001270024
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs75321043, rs77542170	RCV005888944 RCV005888947
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs77542170	RCV005888945
MUTYH-related Breast Cancer	Conflicting classifications of pathogenicity	rs1064793421	RCV004698837
Neoplasm	Conflicting classifications of pathogenicity	rs147754007	RCV004668788
Retinoblastoma	Conflicting classifications of pathogenicity	rs375597447	RCV000761015
See cases	Conflicting classifications of pathogenicity	rs1570370748	RCV004584413
Squamous cell carcinoma of the head and neck	Conflicting classifications of pathogenicity	rs373766973	RCV005886935

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	19161591, 24377542, 34173730
Adenocarcinoma Follicular	Associate	34171097
Adenocarcinoma Of Esophagus	Associate	24377542
Adenocarcinoma of Lung	Associate	29209987
Adenoma	Associate	12606733, 12707038, 12937124, 14691304, 16521226, 16645203, 16943222, 18564191, 19531215, 20687945, 22851115, 23561487, 23599153, 29766397, 31104418, 31285513, 31527860, 32743790
Adenomatous Polyposis Coli	Associate	12606733, 16140997, 16521226, 16943222, 17122612, 17273161, 17605803, 18022921, 18091433, 18194984, 18503156, 18564191, 19531215, 19836313, 20687945, 20924072, 20939750, 21962078, 22278153, 23460355, 23561487, 23599153, 23805267, 24518836, 25604157, 25820570, 26377631, 26446593, 26511139, 28533537, 28551381, 29766397, 29915346, 30272267, 30324682, 30833417, 30852976, 30953464, 31285513, 33414168, 34140662, 34704405, 34716202, 35128723, 35238777, 35545820, 35803914
Adenomatous Polyps	Associate	15931596, 29766397
Arthritis Rheumatoid	Associate	26273655, 28173856
Attenuated familial adenomatous polyposis	Associate	18091433, 19531215, 22851115, 31285513
Breast Neoplasms	Associate	21952991, 22126480, 22297469, 25503501, 26824983, 27194394, 27630279, 30833417, 31575519, 31780696, 31811167, 32868316, 33827469, 33942220, 34866136, 34967580, 35264596, 36011273, 36315513, 37656691
Breast Neoplasms	Stimulate	35403930
Carcinogenesis	Associate	18534194, 19443904, 28634180
Carcinoma Basal Cell	Associate	30089731
Carcinoma Hepatocellular	Associate	16292541, 21171015, 37923899
Carcinoma Non Small Cell Lung	Associate	26159902
Carcinoma Pancreatic Ductal	Associate	28726808, 30833417, 32113160
Carcinoma Renal Cell	Associate	33062672, 33442023
Carcinoma Squamous Cell	Associate	19161591, 31027119, 34173730
Cardiac Output Low	Associate	21505584
Central Nervous System Diseases	Associate	35545820
Cholangiocarcinoma	Associate	16292541
Colorectal Adenomatous Polyposis Autosomal Recessive	Associate	24253443, 37856205
Colorectal Neoplasms	Associate	12707038, 12937124, 15931596, 16943222, 17029639, 17031395, 17122612, 17605803, 18022921, 18271935, 18503156, 18534194, 18564191, 18823566, 19836313, 20682701, 20687945, 20848659, 20924129, 20939750, 21171015, 21952991, 22278153, 22297469, 23322991, 23599153, 24253443, 24377541, 24444654, 24518836, 25030372, 25892863, 26202870, 26377631, 26900293, 27194394, 27799157, 27978560, 28135145, 28197815, 28445943, 28551381, 29257843, 29766397, 29915346, 29967336, 30324682, 31527860, 32312920, 32686686, 32743790, 33414168, 34244858, 34967562, 35609203, 35628513, 35668106, 35770680, 36356413, 37319387, 40156857, 40469416
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	24278394, 24518836, 25204323, 26511139, 27978560, 28135145, 29967336, 30324682
Congenital Abnormalities	Associate	15931596
Desmoid disease hereditary	Associate	23561487
Disease	Associate	35443055
Duodenal Neoplasms	Associate	16943222
Endometrial Neoplasms	Associate	21171015, 27194394
Epstein Barr Virus Infections	Associate	31511648
Genetic Diseases Inborn	Associate	18503156, 37402954
Glioblastoma	Associate	35545820
Glioma	Associate	30642852, 35545820, 40469416
Graft vs Host Disease	Associate	20848659, 24310308
Hamartoma	Associate	32390703
Hamartoma Syndrome Multiple	Associate	29684080
Head and Neck Neoplasms	Associate	25916209
Hereditary Breast and Ovarian Cancer Syndrome	Associate	33326660
Idiopathic Pulmonary Fibrosis	Associate	30716719
Immunologic Deficiency Syndromes	Associate	30833417
Intestinal Polyposis	Associate	12606733, 17122612, 22851115, 23561487, 23805267, 25204323, 26446593, 31527860, 33827469, 34704405, 36356413
Kidney Failure Chronic	Associate	22720119
Kidney Neoplasms	Associate	36451132
Leukemia	Associate	35350997
Liver Diseases	Associate	16292541
Lung Neoplasms	Associate	12056405, 19161591, 23443124, 37885353
Lung Neoplasms	Stimulate	37885353
Lymphatic Metastasis	Associate	31027119
Lymphoma Non Hodgkin	Stimulate	37410378
Medulloblastoma	Associate	40469416
Meningioma	Associate	20150366
Mesothelioma	Associate	37556141
Mesothelioma Malignant	Associate	34008015, 34648949
Microsatellite Instability	Associate	17031395
Mitochondrial Diseases	Associate	30716719
Neoplasm Invasiveness	Inhibit	29257843
Neoplasm Metastasis	Associate	34967562, 37240218
Neoplasms	Associate	12056405, 12707038, 12840008, 12937124, 16292541, 17031395, 17122612, 20848659, 21171015, 21279954, 21952991, 22297469, 23322991, 23460355, 26824983, 26900293, 27194394, 27701467, 28502729, 28634180, 29146522, 29257843, 29684080, 29915346, 30620386, 30833417, 30850667, 31090900, 31104418, 32496904, 33326660, 33442023, 34008015, 34173730, 34479993, 35230882, 35545820, 35609203, 35668106, 36011273, 36833355, 37201251, 37240218, 38093606, 40156857, 40469416
Neoplasms	Stimulate	36833355
Neoplasms Neuroepithelial	Associate	40469416
Neoplastic Syndromes Hereditary	Associate	18176357, 26195711, 31575519, 32090079, 33827469, 36833355
Neurilemmoma	Associate	37402954
Neuroblastoma	Associate	34479993
Neurocytoma	Associate	30642852
Neuroendocrine Tumors	Associate	28634180, 33230973, 35417733, 39447548
Osteoarthritis	Associate	29587570
Ovarian Diseases	Associate	34173730
Ovarian Neoplasms	Associate	27194394, 33560870, 34371384, 35443055
Pancreatic Neoplasms	Associate	28199314, 32113160, 32354656, 39256447
Papillomavirus Infections	Associate	31027119
Peutz Jeghers Syndrome	Associate	32390703
Pheochromocytoma	Associate	40235160
Polycythemia Vera	Associate	33414168
Polyposis Syndrome Hereditary Mixed 1	Associate	18271935, 35803914
Polyposis Syndrome Hereditary Mixed 2	Associate	23599153
Polyps	Associate	22851115
Prostate cancer familial	Associate	36292577
Prostatic Neoplasms	Associate	27701467, 36292577
Reinjuries	Associate	32496904
Retinoblastoma	Associate	31207142
Rufous oculocutaneous albinism	Associate	31027119
Sebaceous Gland Neoplasms	Associate	24518836
Small Cell Lung Carcinoma	Associate	33504652
Stomach Neoplasms	Associate	21171015, 22126480, 27194394
Thyroid Cancer Papillary	Associate	34173730
Turcot syndrome	Associate	24518836, 27978560
Urethral Neoplasms	Associate	24518836
Urinary Bladder Neoplasms	Inhibit	27153553
Urinary Bladder Neoplasms	Associate	27153553, 27194394, 36451132
Uterine Cervical Neoplasms	Associate	31027119
Uveal melanoma	Associate	37402954
von Hippel Lindau Disease	Associate	28199314
Wilms Tumor	Associate	35230882