SETD2 (SET domain containing 2, histone lysine methyltransferase)

Gene

• Entrez ID: 29072
• Gene name: SET domain containing 2, histone lysine methyltransferase
• Gene symbol: SETD2
• Synonyms (NCBI Gene): HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, MRD70, RAPAS, SET2, p231HBP
• Disease Acronyms (UniProt): LLS, MRD70, RAPAS
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: Huntington`s disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115788094	G>A,T	Conflicting-interpretations-of-pathogenicity, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs869025569	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs869025570	A>C	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs869025571	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs869025572	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057518410	G>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1057523157	G>A	Pathogenic, likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1064794751	T>A	Likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1064795661	C>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553691550	C>T	Drug-response	Splice acceptor variant, intron variant
rs1553699115	TTCT>-	Pathogenic	Splice acceptor variant, non coding transcript variant, coding sequence variant
rs1553700642	->TA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559634490	->C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1559720382	T>C	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs1575817869	AG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1575818503	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050126	hsa-miR-26a-5p	CLASH	23622248
MIRT044337	hsa-miR-106b-5p	CLASH	23622248
MIRT053100	hsa-miR-199b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23594994
MIRT437893	hsa-miR-21-5p	ChIP-seq, Luciferase reporter assay	24983504
MIRT731626	hsa-miR-186-5p	Luciferase reporter assay	27159677
MIRT731626	hsa-miR-186-5p	Luciferase reporter assay	27159677
MIRT044337	hsa-miR-106b-5p	ChIP-seq, Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25714014
MIRT044337	hsa-miR-106b-5p	ChIP-seq, Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot	25714014
MIRT1340103	hsa-miR-1264	CLIP-seq
MIRT1340104	hsa-miR-1914	CLIP-seq
MIRT1340105	hsa-miR-3668	CLIP-seq
MIRT1340106	hsa-miR-3975	CLIP-seq
MIRT1340107	hsa-miR-4679	CLIP-seq
MIRT1340108	hsa-miR-4732-5p	CLIP-seq
MIRT1340109	hsa-miR-520d-5p	CLIP-seq
MIRT1340110	hsa-miR-524-5p	CLIP-seq
MIRT1340111	hsa-miR-548ad	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT1340113	hsa-miR-548p	CLIP-seq
MIRT2100505	hsa-miR-146a	CLIP-seq
MIRT2100506	hsa-miR-146b-5p	CLIP-seq
MIRT2100507	hsa-miR-3714	CLIP-seq
MIRT2100508	hsa-miR-4699-3p	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT2100509	hsa-miR-596	CLIP-seq
MIRT2325220	hsa-miR-1302	CLIP-seq
MIRT2325221	hsa-miR-3660	CLIP-seq
MIRT2325222	hsa-miR-4298	CLIP-seq
MIRT2325223	hsa-miR-4526	CLIP-seq
MIRT2325224	hsa-miR-4648	CLIP-seq
MIRT2325225	hsa-miR-4651	CLIP-seq
MIRT2325226	hsa-miR-608	CLIP-seq
MIRT2325227	hsa-miR-628-5p	CLIP-seq
MIRT2440191	hsa-miR-1253	CLIP-seq
MIRT2440192	hsa-miR-2277-3p	CLIP-seq
MIRT2440193	hsa-miR-3065-3p	CLIP-seq
MIRT2440194	hsa-miR-4428	CLIP-seq
MIRT2440195	hsa-miR-4434	CLIP-seq
MIRT2440196	hsa-miR-4516	CLIP-seq
MIRT2620887	hsa-miR-1182	CLIP-seq
MIRT2620888	hsa-miR-1238	CLIP-seq
MIRT2440191	hsa-miR-1253	CLIP-seq
MIRT1340103	hsa-miR-1264	CLIP-seq
MIRT2620889	hsa-miR-129-3p	CLIP-seq
MIRT2325220	hsa-miR-1302	CLIP-seq
MIRT2620890	hsa-miR-1305	CLIP-seq
MIRT2620891	hsa-miR-135a	CLIP-seq
MIRT2620892	hsa-miR-135b	CLIP-seq
MIRT1340104	hsa-miR-1914	CLIP-seq
MIRT2620893	hsa-miR-193a-5p	CLIP-seq
MIRT2440192	hsa-miR-2277-3p	CLIP-seq
MIRT2620894	hsa-miR-23a	CLIP-seq
MIRT2620895	hsa-miR-23b	CLIP-seq
MIRT2620896	hsa-miR-23c	CLIP-seq
MIRT2440193	hsa-miR-3065-3p	CLIP-seq
MIRT2620897	hsa-miR-3120-5p	CLIP-seq
MIRT2620898	hsa-miR-3148	CLIP-seq
MIRT2620899	hsa-miR-3167	CLIP-seq
MIRT2620900	hsa-miR-3176	CLIP-seq
MIRT2620901	hsa-miR-3183	CLIP-seq
MIRT2620902	hsa-miR-323-3p	CLIP-seq
MIRT2620903	hsa-miR-34b	CLIP-seq
MIRT2620904	hsa-miR-3614-5p	CLIP-seq
MIRT1340105	hsa-miR-3668	CLIP-seq
MIRT2620905	hsa-miR-3674	CLIP-seq
MIRT2620906	hsa-miR-369-3p	CLIP-seq
MIRT2620907	hsa-miR-374a	CLIP-seq
MIRT2620908	hsa-miR-374b	CLIP-seq
MIRT2620909	hsa-miR-374c	CLIP-seq
MIRT2620910	hsa-miR-3922-3p	CLIP-seq
MIRT2620911	hsa-miR-3935	CLIP-seq
MIRT1340106	hsa-miR-3975	CLIP-seq
MIRT2620912	hsa-miR-4263	CLIP-seq
MIRT2620913	hsa-miR-4287	CLIP-seq
MIRT2325222	hsa-miR-4298	CLIP-seq
MIRT2440194	hsa-miR-4428	CLIP-seq
MIRT2440195	hsa-miR-4434	CLIP-seq
MIRT2620914	hsa-miR-4435	CLIP-seq
MIRT2620915	hsa-miR-4469	CLIP-seq
MIRT2620916	hsa-miR-4502	CLIP-seq
MIRT2440196	hsa-miR-4516	CLIP-seq
MIRT2325224	hsa-miR-4648	CLIP-seq
MIRT2325225	hsa-miR-4651	CLIP-seq
MIRT1340107	hsa-miR-4679	CLIP-seq
MIRT2620917	hsa-miR-4685-3p	CLIP-seq
MIRT2620918	hsa-miR-4723-3p	CLIP-seq
MIRT1340108	hsa-miR-4732-5p	CLIP-seq
MIRT1340109	hsa-miR-520d-5p	CLIP-seq
MIRT1340110	hsa-miR-524-5p	CLIP-seq
MIRT2620919	hsa-miR-548aa	CLIP-seq
MIRT2620920	hsa-miR-548ac	CLIP-seq
MIRT1340111	hsa-miR-548ad	CLIP-seq
MIRT2620921	hsa-miR-548d-3p	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT1340113	hsa-miR-548p	CLIP-seq
MIRT2620922	hsa-miR-548z	CLIP-seq
MIRT2620923	hsa-miR-576-5p	CLIP-seq
MIRT2325226	hsa-miR-608	CLIP-seq
MIRT2620924	hsa-miR-655	CLIP-seq
MIRT2620925	hsa-miR-876-5p	CLIP-seq
MIRT2620926	hsa-miR-944	CLIP-seq
MIRT2620887	hsa-miR-1182	CLIP-seq
MIRT2620888	hsa-miR-1238	CLIP-seq
MIRT2440191	hsa-miR-1253	CLIP-seq
MIRT1340103	hsa-miR-1264	CLIP-seq
MIRT2620889	hsa-miR-129-3p	CLIP-seq
MIRT2325220	hsa-miR-1302	CLIP-seq
MIRT2620890	hsa-miR-1305	CLIP-seq
MIRT2620891	hsa-miR-135a	CLIP-seq
MIRT2620892	hsa-miR-135b	CLIP-seq
MIRT1340104	hsa-miR-1914	CLIP-seq
MIRT2620893	hsa-miR-193a-5p	CLIP-seq
MIRT2440192	hsa-miR-2277-3p	CLIP-seq
MIRT2440193	hsa-miR-3065-3p	CLIP-seq
MIRT2620897	hsa-miR-3120-5p	CLIP-seq
MIRT2620898	hsa-miR-3148	CLIP-seq
MIRT2620899	hsa-miR-3167	CLIP-seq
MIRT2620900	hsa-miR-3176	CLIP-seq
MIRT2620901	hsa-miR-3183	CLIP-seq
MIRT2620903	hsa-miR-34b	CLIP-seq
MIRT2620904	hsa-miR-3614-5p	CLIP-seq
MIRT1340105	hsa-miR-3668	CLIP-seq
MIRT2620910	hsa-miR-3922-3p	CLIP-seq
MIRT1340106	hsa-miR-3975	CLIP-seq
MIRT2620912	hsa-miR-4263	CLIP-seq
MIRT2620913	hsa-miR-4287	CLIP-seq
MIRT2325222	hsa-miR-4298	CLIP-seq
MIRT2440194	hsa-miR-4428	CLIP-seq
MIRT2440195	hsa-miR-4434	CLIP-seq
MIRT2620914	hsa-miR-4435	CLIP-seq
MIRT2620915	hsa-miR-4469	CLIP-seq
MIRT2620916	hsa-miR-4502	CLIP-seq
MIRT2440196	hsa-miR-4516	CLIP-seq
MIRT2325224	hsa-miR-4648	CLIP-seq
MIRT2325225	hsa-miR-4651	CLIP-seq
MIRT1340107	hsa-miR-4679	CLIP-seq
MIRT2620917	hsa-miR-4685-3p	CLIP-seq
MIRT2620918	hsa-miR-4723-3p	CLIP-seq
MIRT1340108	hsa-miR-4732-5p	CLIP-seq
MIRT1340109	hsa-miR-520d-5p	CLIP-seq
MIRT1340110	hsa-miR-524-5p	CLIP-seq
MIRT2690509	hsa-miR-532-3p	CLIP-seq
MIRT2620919	hsa-miR-548aa	CLIP-seq
MIRT2620920	hsa-miR-548ac	CLIP-seq
MIRT1340111	hsa-miR-548ad	CLIP-seq
MIRT2620921	hsa-miR-548d-3p	CLIP-seq
MIRT1340112	hsa-miR-548g	CLIP-seq
MIRT1340113	hsa-miR-548p	CLIP-seq
MIRT2620922	hsa-miR-548z	CLIP-seq
MIRT2620923	hsa-miR-576-5p	CLIP-seq
MIRT2325226	hsa-miR-608	CLIP-seq
MIRT2620925	hsa-miR-876-5p	CLIP-seq
MIRT2620926	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Activation	18842833
HIF1A	Unknown	19091749

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001763	Process	Morphogenesis of a branching structure	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0005515	Function	Protein binding	IPI	17500595, 19141475, 21988832, 28753426
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	ISS
GO:0006298	Process	Mismatch repair	IMP	23622243
GO:0006355	Process	Regulation of transcription, DNA-templated	IEA
GO:0006368	Process	Transcription elongation from RNA polymerase II promoter	IMP	23325844
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IDA	24843002
GO:0010793	Process	Regulation of mRNA export from nucleus	IMP	19141475
GO:0016032	Process	Viral process	IEA
GO:0016279	Function	Protein-lysine N-methyltransferase activity	IDA	28753426
GO:0018023	Process	Peptidyl-lysine trimethylation	IDA	27518565
GO:0018024	Function	Histone-lysine N-methyltransferase activity	IDA	23043551
GO:0018024	Function	Histone-lysine N-methyltransferase activity	IMP	23622243
GO:0018024	Function	Histone-lysine N-methyltransferase activity	TAS
GO:0018026	Process	Peptidyl-lysine monomethylation	IDA	28753426
GO:0030900	Process	Forebrain development	IEA
GO:0032465	Process	Regulation of cytokinesis	IDA	27518565
GO:0032727	Process	Positive regulation of interferon-alpha production	IDA	28753426
GO:0034340	Process	Response to type I interferon	IDA	28753426
GO:0034728	Process	Nucleosome organization	IMP	23325844
GO:0035441	Process	Cell migration involved in vasculogenesis	IEA
GO:0035987	Process	Endodermal cell differentiation	ISS
GO:0043014	Function	Alpha-tubulin binding	IDA	27518565
GO:0046872	Function	Metal ion binding	IEA
GO:0046975	Function	Histone methyltransferase activity (H3-K36 specific)	IDA	24843002, 26002201, 27474439, 28753426
GO:0048332	Process	Mesoderm morphogenesis	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0048864	Process	Stem cell development	IEA
GO:0051607	Process	Defense response to virus	IDA	28753426
GO:0060039	Process	Pericardium development	IEA
GO:0060669	Process	Embryonic placenta morphogenesis	IEA
GO:0060977	Process	Coronary vasculature morphogenesis	IEA
GO:0097198	Process	Histone H3-K36 trimethylation	IDA	23043551, 24843002, 26002201, 27474439, 28753426
GO:0097198	Process	Histone H3-K36 trimethylation	IMP	19141475, 23325844, 23622243
GO:0097676	Process	Histone H3-K36 dimethylation	IDA	26002201
GO:1902850	Process	Microtubule cytoskeleton organization involved in mitosis	IDA	27518565
GO:1905634	Process	Regulation of protein localization to chromatin	IDA	24843002

Other IDs

• MIM: 612778
• HGNC: 18420
• e!Ensembl: ENSG00000181555

Protein

• UniProt ID: Q9BYW2
• Protein name: Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.359) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1
• Protein function: Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439
• PDB: 2A7O, 2MDC, 2MDI, 2MDJ, 4FMU, 4H12, 5JJY, 5JLB, 5JLE, 5LSS, 5LSX, 5LSY, 5LSZ, 5LT6, 5LT7, 5LT8, 5V21, 5V22, 6J9J, 6VDB, 7EA8, 7EVR, 7EVS, 7LZB, 7LZD, 7LZF, 7TY2, 7TY3, 8Q5P, 8RZU, 9EGZ, 9EH0, 9EH1, 9EH2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17907	AWS	1511 → 1547	AWS domain	Domain
  PF00856	SET	1561 → 1667	SET domain	Family
  PF00397	WW	2391 → 2420	WW domain	Domain
  PF08236	SRI	2467 → 2557	SRI (Set2 Rpb1 interacting) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11461154}.
• Sequence:

  MKQLQPQPPPKMGDFYDPEHPTPEEEENEAKIENVQKTGFIKGPMFKGVASSRFLPKGTK
  TKVNLEEQGRQKVSFSFSLTKKTLQNRFLTALGNEKQSDTPNPPAVPLQVDSTPKMKMEI
  GDTLSTAEESSPPKSRVELGKIHFKKHLLHVTSRPLLATTTAVASPPTHAAPLPAVIAES
  TTVDSPPSSPPPPPPPAQATTLSSPAPVTEPVALPHTPITVLMAAPVPLPVDVAVRSLKE
  PPIIIVPESLEADTKQDTISNSLEEHVTQILNEQADISSKKEDSHIGKDEEIPDSSKISL
  SCKKTGSKKKSSQSEGIFLGSESDEDSVRTSSSQRSHDLKFSASIEKERDFKKSSAPLKS
  EDLGKPSRSKTDRDDKYFSYSKLERDTRYVSSRCRSERERRRSRSHSRSERGSRTNLSYS
  RSERSHYYDSDRRYHRSSPYRERTRYSRPYTDNRARESSDSEEEYKKTYSRRTSSHSSSY
  RDLRTSSYSKSDRDCKTETSYLEMERRGKYSSKLERESKRTSENEAIKRCCSPPNELGFR
  RGSSYSKHDSSASRYKSTLSKPIPKSDKFKNSFCCTELNEEIKQSHSFSLQTPCSKGSEL
  RMINKNPEREKAGSPAPSNRLNDSPTLKKLDELPIFKSEFITHDSHDSIKELDSLSKVKN
  DQLRSFCPIELNINGSPGAESDLATFCTSKTDAVLMTSDDSVTGSELSPLVKACMLSSNG
  FQNISRCKEKDLDDTCMLHKKSESPFRETEPLVSPHQDKLMSMPVMTVDYSKTVVKEPVD
  TRVSCCKTKDSDIYCTLNDSNPSLCNSEAENIEPSVMKISSNSFMNVHLESKPVICDSRN
  LTDHSKFACEEYKQSIGSTSSASVNHFDDLYQPIGSSGIASSLQSLPPGIKVDSLTLLKC
  GENTSPVLDAVLKSKKSSEFLKHAGKETIVEVGSDLPDSGKGFASRENRRNNGLSGKCLQ
  EAQEEGNSILPERRGRPEISLDERGEGGHVHTSDDSEVVFSSCDLNLTMEDSDGVTYALK
  CDSSGHAPEIVSTVHEDYSGSSESSNDESDSEDTDSDDSSIPRNRLQSVVVVPKNSTLPM
  EETSPCSSRSSQSYRHYSDHWEDERLESRRHLYEEKFESIASKACPQTDKFFLHKGTEKN
  PEISFTQSSRKQIDNRLPELSHPQSDGVDSTSHTDVKSDPLGHPNSEETVKAKIPSRQQE
  ELPIYSSDFEDVPNKSWQQTTFQNRPDSRLGKTELSFSSSCEIPHVDGLHSSEELRNLGW
  DFSQEKPSTTYQQPDSSYGACGGHKYQQNAEQYGGTRDYWQGNGYWDPRSGRPPGTGVVY
  DRTQGQVPDSLTDDREEEENWDQQDGSHFSDQSDKFLLSLQKDKGSVQAPEISSNSIKDT
  LAVNEKKDFSKNLEKNDIKDRGPLKKRRQEIESDSESDGELQDRKKVRVEVEQGETSVPP
  GSALVGPSCVMDDFRDPQRWKECAKQGKMPCYFDLIEENVYLTERKKNKSHRDIKRMQCE
  CTPLSKDERAQGEIACGEDCLNRLLMIECSSRCPNGDYCSNRRFQRKQHADVEVILTEKK
  GWGLRAAKDLPSNTFVLEYCGEVLDHKEFKARVKEYARNKNIHYYFMALKNDEIIDATQK
  GNCSRFMNHSCEPNCETQKWTVNGQLRVGFFTTKLVPSGSELTFDYQFQRYGKEAQKCFC
  GSANCRGYLGGENRVSIRAAGGKMKKERSRKKDSVDGELEALMENGEGLSDKNQVLSLSR
  LMVRIETLEQKLTCLELIQNTHSQSCLKSFLERHGLSLLWIWMAELGDGRESNQKLQEEI
  IKTLEHLPIPTKNMLEESKVLPIIQRWSQTKTAVPPLSEGDGYSSENTSRAHTPLNTPDP
  STKLSTEADTDTPKKLMFRRLKIISENSMDSAISDATSELEGKDGKEDLDQLENVPVEEE
  EELQSQQLLPQQLPECKVDSETNIEASKLPTSEPEADAEIEPKESNGTKLEEPINEETPS
  QDEEEGVSDVESERSQEQPDKTVDISDLATKLLDSWKDLKEVYRIPKKSQTEKENTTTER
  GRDAVGFRDQTPAPKTPNRSRERDPDKQTQNKEKRKRRSSLSPPSSAYERGTKRPDDRYD
  TPTSKKKVRIKDRNKLSTEERRKLFEQEVAQREAQKQQQQMQNLGMTSPLPYDSLGYNAP
  HHPFAGYPPGYPMQAYVDPSNPNAGKVLLPTPSMDPVCSPAPYDHAQPLVGHSTEPLSAP
  PPVPVVPHVAAPVEVSSSQYVAQSDGVVHQDSSVAVLPVPAPGPVQGQNYSVWDSNQQSV
  SVQQQYSPAQSQATIYYQGQTCPTVYGVTSPYSQTTPPIVQSYAQPSLQYIQGQQIFTAH
  PQGVVVQPAAAVTTIVAPGQPQPLQPSEMVVTNNLLDLPPPSPPKPKTIVLPPNWKTARD
  PEGKIYYYHVITRQTQWDPPTWESPGDDASLEHEAEMDLGTPTYDENPMKASKKPKTAEA
  DTSSELAKKSKEVFRKEMSQFIVQCLNPYRKPDCKVGRITTTEDFKHLARKLTHGVMNKE
  LKYCKNPEDLECNENVKHKTKEYIKKYMQKFGAVYKPKEDTELE

• Sequence length: 2564

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

PKMTs methylate histone lysines

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	23685749
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Breast cancer	Malignant neoplasm of breast	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	26437033
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	26437033
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Leukemia	leukemia, Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	24509477, 16314571
Luscan-lumish syndrome	LUSCAN-LUMISH SYNDROME	rs869025569, rs869025570, rs869025571, rs869025572, rs1057523157, rs1575817869	23160955, 27317772, 26084711, 24852293
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	24662245, 24509477
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	26437033
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	27317772
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	23797736, 22138691
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Precocious puberty	Precocious Puberty	rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	22138691, 23797736, 23792563, 20054297, 23622243, 25728682
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sotos` syndrome	Sotos` syndrome, Sotos syndrome	rs121908067, rs1562213381, rs1562295135, rs1562296511, rs121908068, rs121908069, rs864309639, rs1562099585, rs121908070, rs1562269320, rs1562312238, rs121908071, rs80338957, rs398124379, rs587784068, rs587784071, rs587784073, rs587784076, rs587784077, rs587784078, rs587784079, rs587784080, rs587784081, rs587784082, rs587784084, rs587784085, rs201327209, rs587784086, rs587784087, rs587784088, rs587784089, rs587784092, rs587784093, rs587784094, rs587784095, rs587784096, rs587784097, rs587784098, rs587784099, rs587784100, rs587784101, rs587784103, rs587784104, rs587784105, rs587784107, rs587784109, rs587784110, rs587784111, rs587784112, rs587784114, rs587784115, rs570278338, rs587784117, rs587784118, rs587784119, rs587784121, rs587784122, rs587784123, rs587784124, rs587784125, rs587784126, rs587784127, rs398124378, rs587784128, rs587784132, rs587784131, rs587784133, rs587784135, rs587784137, rs587784138, rs587784139, rs587784140, rs587784141, rs587784142, rs587784143, rs587784144, rs587784145, rs587784146, rs587784147, rs587784148, rs587784149, rs587784150, rs587784151, rs587784152, rs587784153, rs587784154, rs587784155, rs587784156, rs587784157, rs587784158, rs587784160, rs587784162, rs587784163, rs587784164, rs587784165, rs587784166, rs587784167, rs587784168, rs587784169, rs587784170, rs587784171, rs587784173, rs587784174, rs587784176, rs587784177, rs587784178, rs587784179, rs587784180, rs587784183, rs587784184, rs587784185, rs587784186, rs587784187, rs587784188, rs587784189, rs587784191, rs587784192, rs587784193, rs587784196, rs587784197, rs587784198, rs587784199, rs587784200, rs587784201, rs587784202, rs587784204, rs587784206, rs587784207, rs587784208, rs587784209, rs587784210, rs587784211, rs587784214, rs587784219, rs587784220, rs587784221, rs786205576, rs794727176, rs794727930, rs794729232, rs797045057, rs797045058, rs797045804, rs797045805, rs797045807, rs797045808, rs797045809, rs797045810, rs797045811, rs797045812, rs797045813, rs797045814, rs797045815, rs797045816, rs797045817, rs797045819, rs797045820, rs797045821, rs797045823, rs797045824, rs797045825, rs797045826, rs797045827, rs797045828, rs797045829, rs797045830, rs797045831, rs797045832, rs797045833, rs797045834, rs863224905, rs878855075, rs878855077, rs879253860, rs886041219, rs886041218, rs1057516048, rs1057520339, rs1554189490, rs1060501492, rs1060501497, rs1060501490, rs1060501493, rs1064794051, rs1131691754, rs1131692328, rs1554189941, rs1554195815, rs1554204921, rs1554190214, rs1554190247, rs1554204923, rs1554195840, rs1554199368, rs1006906224, rs1554189512, rs1554202205, rs1554207287, rs1286331975, rs1554189482, rs1554189972, rs1554204122, rs1554206783, rs1554206836, rs1554207316, rs1562246533, rs1562292879, rs1562251194, rs1562213553, rs1562305653, rs1581318949, rs1581558015, rs1581321541, rs1581315609, rs1581319715, rs1581468355, rs1581433729, rs1581548112, rs1581407682, rs1581408152, rs1581411423, rs1581527842, rs1581535570, rs1581563059, rs1581319867, rs1581457332, rs1581491984, rs1756522180	24852293
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma		23797736, 22138691	ClinVar
Otitis media	Recurrent otitis media			ClinVar
Intellectual Developmental Disorder	intellectual developmental disorder, autosomal dominant 70			GenCC
Sotos` Syndrome	Sotos syndrome			GenCC
LUSCAN-LUMISH SYNDROME	Luscan-Lumish syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	26646321, 27687306, 31155235, 37742030
Adenocarcinoma of Lung	Inhibit	35152527
Anorectal Malformations	Associate	36474027
Astrocytoma	Associate	34296393
Autism Spectrum Disorder	Associate	26637798
Autoimmune Diseases	Inhibit	38359295
Blast Crisis	Associate	36768374
Bone Cysts Aneurysmal	Associate	34657606
Brain Neoplasms	Associate	34576156
Breast Neoplasms	Inhibit	19698110
Breast Neoplasms	Associate	30990809, 33293374, 35653124, 36805183, 40429863
Carcinogenesis	Associate	19698110, 26646321, 27813512, 28852847, 37528416
Carcinogenesis	Inhibit	35152527
Carcinoma	Associate	27474439, 28498454
Carcinoma Hepatocellular	Associate	27023146, 35260047
Carcinoma Mucoepidermoid	Associate	30380176
Carcinoma Non Small Cell Lung	Associate	30093630, 33407425
Carcinoma Pancreatic Ductal	Associate	31060750
Carcinoma Renal Cell	Associate	20054297, 22483639, 23036577, 23620406, 23867514, 24029645, 24158655, 24821879, 24843002, 25124064, 25528216, 25714014, 25728682, 25853938, 26111976, 26452128, 26494726, 26516698, 26537074, 26559293, 26575290, 26646321, 26864202, 27292023, 27528607, 27556922, 27713405, 28408295, 28731045, 28753773, 28754676, 28779136, 29132830, 29754934, 30406665, 30487242, 30660076, 31098421, 31655797, 31988284, 32029730, 32251007, 32811483, 33036756, 33121461, 33664427, 34439859, 34580025, 34973243, 34980126, 35231161, 35444164, 35677048, 35686121, 35945780, 36505457, 36591111, 36917021, 37120552, 37418588, 37515929, 37527013, 39672382
Carcinoma Renal Cell	Inhibit	28260718
Cell Transformation Neoplastic	Associate	28498454
Central Nervous System Neoplasms	Associate	30419952
Chondroblastoma	Associate	27229140, 27474439, 32601382
Chordoma	Associate	27072194
Cleft Palate	Associate	29066084
Colitis Ulcerative	Associate	28524162
Colorectal Neoplasms	Associate	27023146, 30018131, 38064496
COVID 19	Associate	33936072
Death	Inhibit	28408295
Death	Associate	37479966
Demyelinating Diseases	Associate	38359295
Drug Related Side Effects and Adverse Reactions	Associate	30093630
Encephalomyelitis Autoimmune Experimental	Associate	38359295
Enteropathy Associated T Cell Lymphoma	Associate	27600764, 35979577
Esophageal Squamous Cell Carcinoma	Associate	29866946
Fibroma Ossifying	Associate	34657606
Gastrointestinal Stromal Tumors	Associate	31570771
Glioblastoma	Associate	26496030, 30861589, 34525361, 38079020
Glioma	Associate	23417712, 28852847, 30419952, 33287886
Granular Cell Tumor	Associate	34925233
Huntington Disease	Associate	16118227
Immunologic Deficiency Syndromes	Inhibit	28260718
Kidney Failure Chronic	Stimulate	23036577
Kidney Neoplasms	Associate	25728682, 28260718, 36662621, 37528416
Leukemia	Associate	24509477, 28498454, 29777171
Leukemia B Cell	Associate	35443279
Leukemia Lymphocytic Chronic B Cell	Associate	31054182, 36567979
Leukemia Mast Cell	Associate	28663576
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	40344211
Leukemia Myeloid Acute	Associate	24509477, 27462774, 29777171, 30922329, 34576219, 35833755, 37874744
Leukemia Myeloid Acute	Inhibit	36607144
Leukemia Prolymphocytic T Cell	Associate	27282254
Light Fixation Seizure Syndrome	Associate	29066084
Lung Neoplasms	Associate	33407425, 36653483
Lung Neoplasms	Inhibit	35152527
Lymphatic Metastasis	Associate	36653483
Lymphoma	Associate	34576156, 35443279
Lymphoma Follicular	Associate	35030632, 35443279
Lymphoma Large B Cell Diffuse	Associate	32469082, 35443279
Lymphoma T Cell	Associate	28122867, 35708139, 35979577
Lymphoma T Cell Peripheral	Associate	30307363, 35895386
Mastocytosis Systemic	Associate	28663576
Meningeal Carcinomatosis	Associate	26864202
Mesothelioma Malignant	Associate	27813512, 27834213, 32083805, 32504035, 34648949, 35999269
Muscular dystrophy congenital with central nervous system involvement	Associate	36768374
Neoplasm Metastasis	Inhibit	19698110, 35152527
Neoplasm Metastasis	Associate	27023146, 29486199, 29674707, 31060750, 33664427, 33722295, 36653483, 37418588
Neoplasm Metastasis	Stimulate	34580025
Neoplasms	Inhibit	19698110, 23867514, 24509477, 24821879, 27292023, 27528607, 27600764, 27614073, 28122867, 30487242, 31054182, 35152527, 35443279
Neoplasms	Associate	22397650, 23036577, 23417712, 23620406, 23644518, 24158655, 24710217, 25124064, 25728682, 25790038, 26494726, 26496030, 26559293, 26575290, 26646321, 26829311, 26832993, 27528705, 28256625, 28445125, 29132830, 29242204, 30089603, 30416077, 30419952, 30660076, 30843621, 31570771, 32860304, 33121461, 33270827, 33293374, 33407425, 33727697, 33994165, 34657606, 34925233, 35134107, 35999269, 36510186, 37120552, 37479966, 37527013, 37528416, 37874744, 40102418
Neoplasms Cystic Mucinous and Serous	Associate	31098421
Neuroendocrine Tumors	Associate	29486199, 39447548
Neuroinflammatory Diseases	Associate	38359295
Pancreatic Neoplasms	Associate	36453584
Pancreatitis	Associate	36453584
Peritonitis	Associate	28910456, 37453150
Phyllodes Tumor	Associate	26832993, 33727697
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 24662245
Progressive Transformation of Germinal Centers	Associate	35443279
Prostatic Neoplasms	Associate	32931739
Prostatic Neoplasms Castration Resistant	Associate	30616239
Recombinant chromosome 8 syndrome	Associate	37479966
Rhabdoid Tumor	Associate	26111976
Rufous oculocutaneous albinism	Associate	35301413
Small Cell Lung Carcinoma	Associate	33880365
Stomach Neoplasms	Associate	28381181
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	32853382
Thrombosis	Associate	32029730
Thymic epithelial tumor	Associate	37703595
Thymoma	Associate	37703595
Uterine Cervical Dysplasia	Inhibit	31060750