CHD3 (chromodomain helicase DNA binding protein 3)

Gene

• Entrez ID: 1107
• Gene name: Chromodomain helicase DNA binding protein 3
• Gene symbol: CHD3
• Synonyms: Mi-2a, Mi2-ALPHA, SNIBCPS, ZFH
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs754919272	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, synonymous variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1064795892	C>T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs1555611722	C>T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555612691	GATGATGCTGAC>-	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, inframe deletion, coding sequence variant
rs1567844992	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1567855081	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1567855669	G>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1567855704	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567856045	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567856331	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1567859975	GGT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs1567860075	CG>TC	Likely-pathogenic	Missense variant, coding sequence variant
rs1567860112	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1567860640	C>T	Likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567860891	T>C	Likely-pathogenic, pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567860919	A>G	Likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861468	C>T	Likely-pathogenic, pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861489	A>G	Likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861501	G>A	Likely-pathogenic, pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861571	G>C	Uncertain-significance, likely-pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1567861894	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1567877108	G>T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs1567878511	->GAAC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032350	hsa-let-7b-5p	Proteomics	18668040
MIRT032350	hsa-let-7b-5p	CLASH	23622248
MIRT051081	hsa-miR-16-5p	CLASH	23622248
MIRT036514	hsa-miR-1226-3p	CLASH	23622248
MIRT036072	hsa-miR-1296-5p	CLASH	23622248
MIRT889109	hsa-miR-1262	CLIP-seq
MIRT889110	hsa-miR-2467-3p	CLIP-seq
MIRT889111	hsa-miR-28-5p	CLIP-seq
MIRT889112	hsa-miR-2861	CLIP-seq
MIRT889113	hsa-miR-3139	CLIP-seq
MIRT889114	hsa-miR-3150a-3p	CLIP-seq
MIRT889115	hsa-miR-3158-5p	CLIP-seq
MIRT889116	hsa-miR-3175	CLIP-seq
MIRT889117	hsa-miR-3179	CLIP-seq
MIRT889118	hsa-miR-3678-3p	CLIP-seq
MIRT889119	hsa-miR-4436b-3p	CLIP-seq
MIRT889120	hsa-miR-4469	CLIP-seq
MIRT889121	hsa-miR-4635	CLIP-seq
MIRT889122	hsa-miR-4650-5p	CLIP-seq
MIRT889123	hsa-miR-4691-5p	CLIP-seq
MIRT889124	hsa-miR-4701-3p	CLIP-seq
MIRT889125	hsa-miR-4709-3p	CLIP-seq
MIRT889126	hsa-miR-491-5p	CLIP-seq
MIRT889127	hsa-miR-558	CLIP-seq
MIRT889128	hsa-miR-617	CLIP-seq
MIRT889129	hsa-miR-661	CLIP-seq
MIRT889130	hsa-miR-708	CLIP-seq
MIRT889131	hsa-miR-939	CLIP-seq
MIRT889132	hsa-miR-1236	CLIP-seq
MIRT889133	hsa-miR-3183	CLIP-seq
MIRT889134	hsa-miR-330-3p	CLIP-seq
MIRT889135	hsa-miR-4303	CLIP-seq
MIRT889136	hsa-miR-4459	CLIP-seq
MIRT889137	hsa-miR-4649-3p	CLIP-seq
MIRT889138	hsa-miR-4667-3p	CLIP-seq
MIRT889139	hsa-miR-4672	CLIP-seq
MIRT889140	hsa-miR-4676-5p	CLIP-seq
MIRT889141	hsa-miR-4723-3p	CLIP-seq
MIRT889142	hsa-miR-4778-5p	CLIP-seq
MIRT889143	hsa-miR-575	CLIP-seq
MIRT889144	hsa-miR-887	CLIP-seq
MIRT889140	hsa-miR-4676-5p	CLIP-seq
MIRT889143	hsa-miR-575	CLIP-seq
MIRT889144	hsa-miR-887	CLIP-seq
MIRT1963466	hsa-let-7a	CLIP-seq
MIRT1963467	hsa-let-7b	CLIP-seq
MIRT1963468	hsa-let-7c	CLIP-seq
MIRT1963469	hsa-let-7d	CLIP-seq
MIRT1963470	hsa-let-7e	CLIP-seq
MIRT1963471	hsa-let-7f	CLIP-seq
MIRT1963472	hsa-let-7g	CLIP-seq
MIRT1963473	hsa-let-7i	CLIP-seq
MIRT889114	hsa-miR-3150a-3p	CLIP-seq
MIRT889116	hsa-miR-3175	CLIP-seq
MIRT1963474	hsa-miR-4458	CLIP-seq
MIRT889120	hsa-miR-4469	CLIP-seq
MIRT1963475	hsa-miR-4500	CLIP-seq
MIRT889123	hsa-miR-4691-5p	CLIP-seq
MIRT1963476	hsa-miR-4728-5p	CLIP-seq
MIRT889126	hsa-miR-491-5p	CLIP-seq
MIRT1963477	hsa-miR-890	CLIP-seq
MIRT889131	hsa-miR-939	CLIP-seq
MIRT1963478	hsa-miR-98	CLIP-seq
MIRT1963479	hsa-miR-3667-5p	CLIP-seq
MIRT1963480	hsa-miR-3929	CLIP-seq
MIRT1963481	hsa-miR-4281	CLIP-seq
MIRT1963482	hsa-miR-4419a	CLIP-seq
MIRT1963483	hsa-miR-4419b	CLIP-seq
MIRT889120	hsa-miR-4469	CLIP-seq
MIRT1963484	hsa-miR-4478	CLIP-seq
MIRT1963485	hsa-miR-4510	CLIP-seq
MIRT1963486	hsa-miR-4725-5p	CLIP-seq
MIRT1963487	hsa-miR-504	CLIP-seq
MIRT1963477	hsa-miR-890	CLIP-seq
MIRT2199909	hsa-miR-1184	CLIP-seq
MIRT2199910	hsa-miR-1205	CLIP-seq
MIRT2199911	hsa-miR-1245b-5p	CLIP-seq
MIRT2199912	hsa-miR-1321	CLIP-seq
MIRT2199913	hsa-miR-1909	CLIP-seq
MIRT889110	hsa-miR-2467-3p	CLIP-seq
MIRT889111	hsa-miR-28-5p	CLIP-seq
MIRT889113	hsa-miR-3139	CLIP-seq
MIRT2199914	hsa-miR-3142	CLIP-seq
MIRT889115	hsa-miR-3158-5p	CLIP-seq
MIRT2199915	hsa-miR-3160-3p	CLIP-seq
MIRT889116	hsa-miR-3175	CLIP-seq
MIRT2199916	hsa-miR-3184	CLIP-seq
MIRT2199917	hsa-miR-337-5p	CLIP-seq
MIRT889118	hsa-miR-3678-3p	CLIP-seq
MIRT2199918	hsa-miR-3713	CLIP-seq
MIRT2199919	hsa-miR-3936	CLIP-seq
MIRT2199920	hsa-miR-423-5p	CLIP-seq
MIRT1963481	hsa-miR-4281	CLIP-seq
MIRT1963482	hsa-miR-4419a	CLIP-seq
MIRT2199921	hsa-miR-4487	CLIP-seq
MIRT1963485	hsa-miR-4510	CLIP-seq
MIRT2199922	hsa-miR-4645-5p	CLIP-seq
MIRT889122	hsa-miR-4650-5p	CLIP-seq
MIRT2199923	hsa-miR-4651	CLIP-seq
MIRT2199924	hsa-miR-4673	CLIP-seq
MIRT1963476	hsa-miR-4728-5p	CLIP-seq
MIRT2199925	hsa-miR-4739	CLIP-seq
MIRT2199926	hsa-miR-4742-3p	CLIP-seq
MIRT2199927	hsa-miR-4756-5p	CLIP-seq
MIRT889126	hsa-miR-491-5p	CLIP-seq
MIRT2199928	hsa-miR-544	CLIP-seq
MIRT889127	hsa-miR-558	CLIP-seq
MIRT2199929	hsa-miR-608	CLIP-seq
MIRT889130	hsa-miR-708	CLIP-seq
MIRT2502633	hsa-miR-1224-5p	CLIP-seq
MIRT2199911	hsa-miR-1245b-5p	CLIP-seq
MIRT2199912	hsa-miR-1321	CLIP-seq
MIRT2502634	hsa-miR-1343	CLIP-seq
MIRT889110	hsa-miR-2467-3p	CLIP-seq
MIRT889111	hsa-miR-28-5p	CLIP-seq
MIRT2502635	hsa-miR-300	CLIP-seq
MIRT889113	hsa-miR-3139	CLIP-seq
MIRT2199914	hsa-miR-3142	CLIP-seq
MIRT2502636	hsa-miR-3150b-3p	CLIP-seq
MIRT889115	hsa-miR-3158-5p	CLIP-seq
MIRT2502637	hsa-miR-3192	CLIP-seq
MIRT889118	hsa-miR-3678-3p	CLIP-seq
MIRT2502638	hsa-miR-3689a-3p	CLIP-seq
MIRT2502639	hsa-miR-3689c	CLIP-seq
MIRT2199918	hsa-miR-3713	CLIP-seq
MIRT2502640	hsa-miR-381	CLIP-seq
MIRT2502641	hsa-miR-3915	CLIP-seq
MIRT2502642	hsa-miR-411	CLIP-seq
MIRT2502643	hsa-miR-4252	CLIP-seq
MIRT2502644	hsa-miR-4293	CLIP-seq
MIRT1963482	hsa-miR-4419a	CLIP-seq
MIRT2502645	hsa-miR-4446-5p	CLIP-seq
MIRT2502646	hsa-miR-4474-5p	CLIP-seq
MIRT1963485	hsa-miR-4510	CLIP-seq
MIRT2502647	hsa-miR-4525	CLIP-seq
MIRT2502648	hsa-miR-455-5p	CLIP-seq
MIRT889121	hsa-miR-4635	CLIP-seq
MIRT2502649	hsa-miR-4639-3p	CLIP-seq
MIRT2199922	hsa-miR-4645-5p	CLIP-seq
MIRT889122	hsa-miR-4650-5p	CLIP-seq
MIRT2502650	hsa-miR-4666-3p	CLIP-seq
MIRT889138	hsa-miR-4667-3p	CLIP-seq
MIRT2199924	hsa-miR-4673	CLIP-seq
MIRT2502651	hsa-miR-4689	CLIP-seq
MIRT2502652	hsa-miR-4707-5p	CLIP-seq
MIRT889125	hsa-miR-4709-3p	CLIP-seq
MIRT1963476	hsa-miR-4728-5p	CLIP-seq
MIRT2199925	hsa-miR-4739	CLIP-seq
MIRT2199926	hsa-miR-4742-3p	CLIP-seq
MIRT2502653	hsa-miR-4749-3p	CLIP-seq
MIRT2502654	hsa-miR-4755-5p	CLIP-seq
MIRT2199927	hsa-miR-4756-5p	CLIP-seq
MIRT2502655	hsa-miR-4764-5p	CLIP-seq
MIRT2502656	hsa-miR-4779	CLIP-seq
MIRT2502657	hsa-miR-4784	CLIP-seq
MIRT2502658	hsa-miR-4789-5p	CLIP-seq
MIRT889127	hsa-miR-558	CLIP-seq
MIRT2502659	hsa-miR-596	CLIP-seq
MIRT2502660	hsa-miR-665	CLIP-seq
MIRT889130	hsa-miR-708	CLIP-seq
MIRT889110	hsa-miR-2467-3p	CLIP-seq
MIRT889111	hsa-miR-28-5p	CLIP-seq
MIRT889113	hsa-miR-3139	CLIP-seq
MIRT889115	hsa-miR-3158-5p	CLIP-seq
MIRT889118	hsa-miR-3678-3p	CLIP-seq
MIRT889121	hsa-miR-4635	CLIP-seq
MIRT889125	hsa-miR-4709-3p	CLIP-seq
MIRT889127	hsa-miR-558	CLIP-seq
MIRT889130	hsa-miR-708	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	27068747
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	27068747
GO:0003677	Function	DNA binding	TAS	9326634
GO:0003678	Function	DNA helicase activity	TAS	9326634
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004386	Function	Helicase activity	NAS	9688266
GO:0005515	Function	Protein binding	IPI	9804427, 12505151, 15383276, 16169070, 19703393, 20676135, 21642969, 21900206, 22720776, 26816381, 27068747
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	22720776
GO:0005634	Component	Nucleus	NAS	9688266
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	17626165
GO:0005813	Component	Centrosome	IDA	17626165
GO:0006333	Process	Chromatin assembly or disassembly	IEA
GO:0006355	Process	Regulation of transcription, DNA-templated	NAS	9688266
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9326634
GO:0007051	Process	Spindle organization	IDA	17626165
GO:0007098	Process	Centrosome cycle	IDA	17626165
GO:0008270	Function	Zinc ion binding	NAS	9688266
GO:0016581	Component	NuRD complex	IDA	17827154
GO:0016581	Component	NuRD complex	IPI	27068747
GO:0016605	Component	PML body	IDA	27068747
GO:0016887	Function	ATPase activity	IDA	30397230
GO:0032508	Process	DNA duplex unwinding	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0036121	Function	Double-stranded DNA helicase activity	IDA	30397230
GO:0043044	Process	ATP-dependent chromatin remodeling	IMP	30397230
GO:0070615	Function	Nucleosome-dependent ATPase activity	IDA	30397230
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS

Other IDs

• MIM: 602120
• HGNC: 1918
• e!Ensembl: ENSG00000170004

Protein

• UniProt ID: Q12873
• Protein name: Chromodomain-helicase-DNA-binding protein 3 (CHD-3) (EC 3.6.4.-) (ATP-dependent helicase CHD3) (Mi-2 autoantigen 240 kDa protein) (Mi2-alpha) (Zinc finger helicase) (hZFH)
• Protein function: ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA (PubMed:28977666). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08073	CHDNT	148 → 201	CHDNT (NUC034) domain	Domain
  PF00628	PHD	381 → 426	PHD-finger	Domain
  PF00628	PHD	458 → 503	PHD-finger	Domain
  PF00385	Chromo	631 → 683	Chromo (CHRromatin Organisation MOdifier) domain	Domain
  PF00176	SNF2_N	739 → 1035	SNF2 family N-terminal domain	Family
  PF00271	Helicase_C	1060 → 1174	Helicase conserved C-terminal domain	Family
  PF06465	DUF1087	1295 → 1356	Domain of Unknown Function (DUF1087)	Domain
  PF06461	DUF1086	1376 → 1517	Domain of Unknown Function (DUF1086)	Domain
  PF08074	CHDCT2	1736 → 1862	CHDCT2 (NUC038) domain	Domain

• Sequence:

  MKAADTVILWARSKNDQLRISFPPGLCWGDRMPDKDDIRLLPSALGVKKRKRGPKKQKEN
  KPGKPRKRKKRDSEEEFGSERDEYREKSESGGSEYGTGPGRKRRRKHREKKEKKTKRRKK
  GEGDGGQKQVEQKSSATLLLTWGLEDVEHVFSEEDYHTLTNYKAFSQFMRPLIAKKNPKI
  PMSKMMTILGAKWREFSANNPFKGSAAAVAAAAAAAAAAVAEQVSAAVSSATPIAPSGPP
  ALPPPPAADIQPPPIRRAKTKEGKGPGHKRRSKSPRVPDGRKKLRGKKMAPLKIKLGLLG
  GKRKKGGSYVFQSDEGPEPEAEESDLDSGSVHSASGRPDGPVRTKKLKRGRPGRKKKKVL
  GCPAVAGEEEVDGYETDHQDYCEVCQQGGEIILCDTCPRAYHLVCLDPELDRAPEGKWSC
  PHCEKEGVQWEAKEEEEEYEEEGEEEGEKEEEDDHMEYCRVCKDGGELLCCDACISSYHI
  HCLNPPLPDIPNGEWLCPRCTCPVLKGRVQKILHWRWGEPPVAVPAPQQADGNPDVPPPR
  PLQGRSEREFFVKWVGLSYWHCSWAKELQLEIFHLVMYRNYQRKNDMDEPPPLDYGSGED
  DGKSDKRKVKDPHYAEMEEKYYRFGIKPEWMTVHRIINHSVDKKGNYHYLVKWRDLPYDQ
  STWEEDEMNIPEYEEHKQSYWRHRELIMGEDPAQPRKYKKKKKELQGDGPPSSPTNDPTV
  KYETQPRFITATGGTLHMYQLEGLNWLRFSWAQGTDTILADEMGLGKTIQTIVFLYSLYK
  EGHTKGPFLVSAPLSTIINWEREFQMWAPKFYVVTYTGDKDSRAIIRENEFSFEDNAIKG
  GKKAFKMKREAQVKFHVLLTSYELITIDQAALGSIRWACLVVDEAHRLKNNQSKFFRVLN
  GYKIDHKLLLTGTPLQNNLEELFHLLNFLTPERFNNLEGFLEEFADISKEDQIKKLHDLL
  GPHMLRRLKADVFKNMPAKTELIVRVELSPMQKKYYKYILTRNFEALNSRGGGNQVSLLN
  IMMDLKKCCNHPYLFPVAAMESPKLPSGAYEGGALIKSSGKLMLLQKMLRKLKEQGHRVL
  IFSQMTKMLDLLEDFLDYEGYKYERIDGGITGALRQEAIDRFNAPGAQQFCFLLSTRAGG
  LGINLATADTVIIFDSDWNPHNDIQAFSRAHRIGQANKVMIYRFVTRASVEERITQVAKR
  KMMLTHLVVRPGLGSKAGSMSKQELDDILKFGTEELFKDENEGENKEEDSSVIHYDNEAI
  ARLLDRNQDATEDTDVQNMNEYLSSFKVAQYVVREEDKIEEIEREIIKQEENVDPDYWEK
  LLRHHYEQQQEDLARNLGKGKRVRKQVNYNDAAQEDQDNQSEYSVGSEEEDEDFDERPEG
  RRQSKRQLRNEKDKPLPPLLARVGGNIEVLGFNTRQRKAFLNAVMRWGMPPQDAFTTQWL
  VRDLRGKTEKEFKAYVSLFMRHLCEPGADGSETFADGVPREGLSRQQVLTRIGVMSLVKK
  KVQEFEHINGRWSMPELMPDPSADSKRSSRASSPTKTSPTTPEASATNSPCTSKPATPAP
  SEKGEGIRTPLEKEEAENQEEKPEKNSRIGEKMETEADAPSPAPSLGERLEPRKIPLEDE
  VPGVPGEMEPEPGYRGDREKSATESTPGERGEEKPLDGQEHRERPEGETGDLGKREDVKG
  DRELRPGPRDEPRSNGRREEKTEKPRFMFNIADGGFTELHTLWQNEERAAISSGKLNEIW
  HRRHDYWLLAGIVLHGYARWQDIQNDAQFAIINEPFKTEANKGNFLEMKNKFLARRFKLL
  EQALVIEEQLRRAAYLNLSQEPAHPAMALHARFAEAECLAESHQHLSKESLAGNKPANAV
  LHKVLNQLEELLSDMKADVTRLPATLSRIPPIAARLQMSERSILSRLASKGTEPHPTPAY
  PPGPYATPPGYGAAFSAAPVGALAAAGANYSQMPAGSFITAATNGPPVLVKKEKEMVGAL
  VSDGLDRKEPRAGEVICIDD

• Sequence length: 2000

Pathways

KEGG:

ATP-dependent chromatin remodeling

Reactome:

HDACs deacetylate histones
SUMOylation of chromatin organization proteins
Regulation of TP53 Activity through Acetylation
RNA Polymerase I Transcription Initiation
Regulation of PTEN gene transcription

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Apraxia	Apraxia of Phonation	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
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	29463886
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557	29463886
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	29463886
Prostate cancer	Malignant neoplasm of prostate, Prostate carcinoma, Prostate cancer, familial	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475, 29892016
Prostate cancer, hereditary	PROSTATE CANCER, HEREDITARY, 1	rs387906327, rs193929331, rs74315365, rs10993994, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466	29892016
Sezary syndrome	Sezary Syndrome	rs587776632	26551667
Snijders blok-campeau syndrome	SNIJDERS BLOK-CAMPEAU SYNDROME	rs1064795892, rs1555611722, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567877108, rs1567864750, rs1971195837	30397230, 29463886

Unknown
Disease name	Disease term	dbSNP ID	References
Astigmatism	Astigmatism
Congenital epicanthus	Congenital Epicanthus
Dysarthria	Dysarthria
Frontal bossing	Frontal bossing
Hyperopia	Hyperopia
Ischemic stroke	Ischemic stroke	rs6025, rs1799963, rs1799983	26089329
Prostatic neoplasms	Prostatic Neoplasms		29610475
Stereotyped behavior	Stereotyped Behavior
Strabismus	Strabismus
Stroke	Cerebrovascular accident		26089329