CACNA1E (calcium voltage-gated channel subunit alpha1 E)

Gene

• Entrez ID: 777
• Gene name: Calcium voltage-gated channel subunit alpha1 E
• Gene symbol: CACNA1E
• Synonyms: BII, CACH6, CACNL1A6, Cav2.3, DEE69, EIEE69, gm139
• Chromosome: 1
• Chromosome location: 1q25.3
• Summary: Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12131800	G>A,C	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs778291283	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs869312920	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886039323	G>A	Pathogenic	Coding sequence variant, missense variant
rs1064795779	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1159957403	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1382064469	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553286278	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553286282	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558308998	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT708588	hsa-miR-892b	HITS-CLIP	19536157
MIRT708587	hsa-miR-6840-5p	HITS-CLIP	19536157
MIRT708586	hsa-miR-5587-3p	HITS-CLIP	19536157
MIRT708585	hsa-miR-106b-3p	HITS-CLIP	19536157
MIRT708584	hsa-miR-6815-3p	HITS-CLIP	19536157
MIRT659922	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT659921	hsa-miR-4286	HITS-CLIP	23824327
MIRT659920	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT659919	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT659918	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT659917	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT659916	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT708588	hsa-miR-892b	HITS-CLIP	19536157
MIRT708587	hsa-miR-6840-5p	HITS-CLIP	19536157
MIRT708586	hsa-miR-5587-3p	HITS-CLIP	19536157
MIRT708585	hsa-miR-106b-3p	HITS-CLIP	19536157
MIRT708584	hsa-miR-6815-3p	HITS-CLIP	19536157
MIRT659922	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT659921	hsa-miR-4286	HITS-CLIP	23824327
MIRT659920	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT659919	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT659918	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT659917	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT659916	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT857566	hsa-miR-1245b-5p	CLIP-seq
MIRT857567	hsa-miR-1321	CLIP-seq
MIRT857568	hsa-miR-138	CLIP-seq
MIRT857569	hsa-miR-3065-5p	CLIP-seq
MIRT857570	hsa-miR-3126-5p	CLIP-seq
MIRT857571	hsa-miR-3129-3p	CLIP-seq
MIRT857572	hsa-miR-3142	CLIP-seq
MIRT857573	hsa-miR-3150b-3p	CLIP-seq
MIRT857574	hsa-miR-3153	CLIP-seq
MIRT857575	hsa-miR-320a	CLIP-seq
MIRT857576	hsa-miR-320b	CLIP-seq
MIRT857577	hsa-miR-320c	CLIP-seq
MIRT857578	hsa-miR-320d	CLIP-seq
MIRT857579	hsa-miR-3667-5p	CLIP-seq
MIRT857580	hsa-miR-4299	CLIP-seq
MIRT857581	hsa-miR-4419a	CLIP-seq
MIRT857582	hsa-miR-4420	CLIP-seq
MIRT857583	hsa-miR-4429	CLIP-seq
MIRT857584	hsa-miR-4487	CLIP-seq
MIRT857585	hsa-miR-4490	CLIP-seq
MIRT857586	hsa-miR-4510	CLIP-seq
MIRT857587	hsa-miR-4710	CLIP-seq
MIRT857588	hsa-miR-4739	CLIP-seq
MIRT857589	hsa-miR-4756-5p	CLIP-seq
MIRT857590	hsa-miR-4784	CLIP-seq
MIRT857591	hsa-miR-4792	CLIP-seq
MIRT857592	hsa-miR-583	CLIP-seq
MIRT857593	hsa-miR-591	CLIP-seq
MIRT857594	hsa-miR-606	CLIP-seq
MIRT857595	hsa-miR-765	CLIP-seq
MIRT857596	hsa-miR-873	CLIP-seq
MIRT857597	hsa-let-7a	CLIP-seq
MIRT857598	hsa-let-7b	CLIP-seq
MIRT857599	hsa-let-7c	CLIP-seq
MIRT857600	hsa-let-7d	CLIP-seq
MIRT857601	hsa-let-7e	CLIP-seq
MIRT857602	hsa-let-7f	CLIP-seq
MIRT857603	hsa-let-7g	CLIP-seq
MIRT857604	hsa-let-7i	CLIP-seq
MIRT857605	hsa-miR-122	CLIP-seq
MIRT857606	hsa-miR-1224-5p	CLIP-seq
MIRT857607	hsa-miR-1231	CLIP-seq
MIRT857608	hsa-miR-1233	CLIP-seq
MIRT857609	hsa-miR-1245b-3p	CLIP-seq
MIRT857610	hsa-miR-1248	CLIP-seq
MIRT857611	hsa-miR-1271	CLIP-seq
MIRT857612	hsa-miR-1285	CLIP-seq
MIRT857613	hsa-miR-1304	CLIP-seq
MIRT857614	hsa-miR-1322	CLIP-seq
MIRT857615	hsa-miR-139-5p	CLIP-seq
MIRT857616	hsa-miR-1587	CLIP-seq
MIRT857617	hsa-miR-15a	CLIP-seq
MIRT857618	hsa-miR-15b	CLIP-seq
MIRT857619	hsa-miR-16	CLIP-seq
MIRT857620	hsa-miR-182	CLIP-seq
MIRT857621	hsa-miR-1913	CLIP-seq
MIRT857622	hsa-miR-195	CLIP-seq
MIRT857623	hsa-miR-202	CLIP-seq
MIRT857624	hsa-miR-203	CLIP-seq
MIRT857625	hsa-miR-2052	CLIP-seq
MIRT857626	hsa-miR-3074-5p	CLIP-seq
MIRT857627	hsa-miR-3119	CLIP-seq
MIRT857628	hsa-miR-3120-5p	CLIP-seq
MIRT857629	hsa-miR-3135b	CLIP-seq
MIRT857630	hsa-miR-3138	CLIP-seq
MIRT857631	hsa-miR-3140-3p	CLIP-seq
MIRT857632	hsa-miR-3150a-3p	CLIP-seq
MIRT857573	hsa-miR-3150b-3p	CLIP-seq
MIRT857633	hsa-miR-3151	CLIP-seq
MIRT857634	hsa-miR-3157-3p	CLIP-seq
MIRT857635	hsa-miR-3173-3p	CLIP-seq
MIRT857636	hsa-miR-3173-5p	CLIP-seq
MIRT857637	hsa-miR-3175	CLIP-seq
MIRT857638	hsa-miR-3180-5p	CLIP-seq
MIRT857639	hsa-miR-3187-5p	CLIP-seq
MIRT857640	hsa-miR-320e	CLIP-seq
MIRT857641	hsa-miR-324-3p	CLIP-seq
MIRT857642	hsa-miR-339-5p	CLIP-seq
MIRT857643	hsa-miR-33a	CLIP-seq
MIRT857644	hsa-miR-33b	CLIP-seq
MIRT857645	hsa-miR-34a	CLIP-seq
MIRT857646	hsa-miR-34c-5p	CLIP-seq
MIRT857647	hsa-miR-3618	CLIP-seq
MIRT857648	hsa-miR-3622b-5p	CLIP-seq
MIRT857649	hsa-miR-3652	CLIP-seq
MIRT857650	hsa-miR-3689d	CLIP-seq
MIRT857651	hsa-miR-375	CLIP-seq
MIRT857652	hsa-miR-378g	CLIP-seq
MIRT857653	hsa-miR-3915	CLIP-seq
MIRT857654	hsa-miR-3919	CLIP-seq
MIRT857655	hsa-miR-424	CLIP-seq
MIRT857656	hsa-miR-4265	CLIP-seq
MIRT857657	hsa-miR-4269	CLIP-seq
MIRT857658	hsa-miR-4273	CLIP-seq
MIRT857659	hsa-miR-4287	CLIP-seq
MIRT857660	hsa-miR-4292	CLIP-seq
MIRT857661	hsa-miR-4296	CLIP-seq
MIRT857662	hsa-miR-431	CLIP-seq
MIRT857663	hsa-miR-4311	CLIP-seq
MIRT857664	hsa-miR-4322	CLIP-seq
MIRT857665	hsa-miR-4330	CLIP-seq
MIRT857666	hsa-miR-4428	CLIP-seq
MIRT857667	hsa-miR-4430	CLIP-seq
MIRT857668	hsa-miR-4447	CLIP-seq
MIRT857669	hsa-miR-4453	CLIP-seq
MIRT857670	hsa-miR-4458	CLIP-seq
MIRT857671	hsa-miR-4469	CLIP-seq
MIRT857672	hsa-miR-4472	CLIP-seq
MIRT857673	hsa-miR-4486	CLIP-seq
MIRT857674	hsa-miR-4492	CLIP-seq
MIRT857675	hsa-miR-4498	CLIP-seq
MIRT857676	hsa-miR-449a	CLIP-seq
MIRT857677	hsa-miR-449b	CLIP-seq
MIRT857678	hsa-miR-4500	CLIP-seq
MIRT857679	hsa-miR-4505	CLIP-seq
MIRT857680	hsa-miR-450b-5p	CLIP-seq
MIRT857681	hsa-miR-4514	CLIP-seq
MIRT857682	hsa-miR-4521	CLIP-seq
MIRT857683	hsa-miR-4524	CLIP-seq
MIRT857684	hsa-miR-4538	CLIP-seq
MIRT857685	hsa-miR-4633-5p	CLIP-seq
MIRT857686	hsa-miR-4642	CLIP-seq
MIRT857687	hsa-miR-4656	CLIP-seq
MIRT857688	hsa-miR-4675	CLIP-seq
MIRT857689	hsa-miR-4677-5p	CLIP-seq
MIRT857690	hsa-miR-4684-3p	CLIP-seq
MIRT857691	hsa-miR-4685-3p	CLIP-seq
MIRT857692	hsa-miR-4688	CLIP-seq
MIRT857693	hsa-miR-4689	CLIP-seq
MIRT857694	hsa-miR-4692	CLIP-seq
MIRT857695	hsa-miR-4699-3p	CLIP-seq
MIRT857696	hsa-miR-4704-3p	CLIP-seq
MIRT857697	hsa-miR-4711-3p	CLIP-seq
MIRT857698	hsa-miR-4725-5p	CLIP-seq
MIRT857699	hsa-miR-4741	CLIP-seq
MIRT857700	hsa-miR-4742-5p	CLIP-seq
MIRT857701	hsa-miR-4749-3p	CLIP-seq
MIRT857702	hsa-miR-4752	CLIP-seq
MIRT857703	hsa-miR-4755-3p	CLIP-seq
MIRT857704	hsa-miR-4768-3p	CLIP-seq
MIRT857705	hsa-miR-4777-3p	CLIP-seq
MIRT857590	hsa-miR-4784	CLIP-seq
MIRT857706	hsa-miR-4800-5p	CLIP-seq
MIRT857707	hsa-miR-491-5p	CLIP-seq
MIRT857708	hsa-miR-497	CLIP-seq
MIRT857709	hsa-miR-503	CLIP-seq
MIRT857710	hsa-miR-504	CLIP-seq
MIRT857711	hsa-miR-507	CLIP-seq
MIRT857712	hsa-miR-520a-5p	CLIP-seq
MIRT857713	hsa-miR-525-5p	CLIP-seq
MIRT857714	hsa-miR-557	CLIP-seq
MIRT857715	hsa-miR-574-5p	CLIP-seq
MIRT857716	hsa-miR-581	CLIP-seq
MIRT857717	hsa-miR-582-3p	CLIP-seq
MIRT857592	hsa-miR-583	CLIP-seq
MIRT857593	hsa-miR-591	CLIP-seq
MIRT857594	hsa-miR-606	CLIP-seq
MIRT857718	hsa-miR-612	CLIP-seq
MIRT857719	hsa-miR-646	CLIP-seq
MIRT857720	hsa-miR-647	CLIP-seq
MIRT857721	hsa-miR-665	CLIP-seq
MIRT857722	hsa-miR-711	CLIP-seq
MIRT857723	hsa-miR-762	CLIP-seq
MIRT857595	hsa-miR-765	CLIP-seq
MIRT857724	hsa-miR-769-5p	CLIP-seq
MIRT857725	hsa-miR-934	CLIP-seq
MIRT857726	hsa-miR-939	CLIP-seq
MIRT857727	hsa-miR-96	CLIP-seq
MIRT857728	hsa-miR-98	CLIP-seq
MIRT1546034	hsa-miR-186	CLIP-seq
MIRT857654	hsa-miR-3919	CLIP-seq
MIRT1546035	hsa-miR-4718	CLIP-seq
MIRT857592	hsa-miR-583	CLIP-seq
MIRT1954693	hsa-miR-1827	CLIP-seq
MIRT857632	hsa-miR-3150a-3p	CLIP-seq
MIRT1954694	hsa-miR-3620	CLIP-seq
MIRT1954695	hsa-miR-3940-5p	CLIP-seq
MIRT857663	hsa-miR-4311	CLIP-seq
MIRT1954696	hsa-miR-4436b-3p	CLIP-seq
MIRT1954697	hsa-miR-4507	CLIP-seq
MIRT1954698	hsa-miR-4646-3p	CLIP-seq
MIRT1954699	hsa-miR-4661-3p	CLIP-seq
MIRT1954700	hsa-miR-4714-5p	CLIP-seq
MIRT1546035	hsa-miR-4718	CLIP-seq
MIRT857700	hsa-miR-4742-5p	CLIP-seq
MIRT1954701	hsa-miR-4772-5p	CLIP-seq
MIRT1954702	hsa-miR-4797-3p	CLIP-seq
MIRT857680	hsa-miR-450b-5p	CLIP-seq
MIRT857700	hsa-miR-4742-5p	CLIP-seq
MIRT857711	hsa-miR-507	CLIP-seq
MIRT857714	hsa-miR-557	CLIP-seq
MIRT1954693	hsa-miR-1827	CLIP-seq
MIRT2385445	hsa-miR-3125	CLIP-seq
MIRT857633	hsa-miR-3151	CLIP-seq
MIRT2385446	hsa-miR-3646	CLIP-seq
MIRT2385447	hsa-miR-3662	CLIP-seq
MIRT2385448	hsa-miR-3916	CLIP-seq
MIRT857656	hsa-miR-4265	CLIP-seq
MIRT857660	hsa-miR-4292	CLIP-seq
MIRT857661	hsa-miR-4296	CLIP-seq
MIRT2385449	hsa-miR-4308	CLIP-seq
MIRT857662	hsa-miR-431	CLIP-seq
MIRT857664	hsa-miR-4322	CLIP-seq
MIRT2385450	hsa-miR-4437	CLIP-seq
MIRT857668	hsa-miR-4447	CLIP-seq
MIRT857672	hsa-miR-4472	CLIP-seq
MIRT2385451	hsa-miR-4674	CLIP-seq
MIRT857697	hsa-miR-4711-3p	CLIP-seq
MIRT2385452	hsa-miR-4714-3p	CLIP-seq
MIRT2385453	hsa-miR-4795-5p	CLIP-seq
MIRT857707	hsa-miR-491-5p	CLIP-seq
MIRT857716	hsa-miR-581	CLIP-seq
MIRT857592	hsa-miR-583	CLIP-seq
MIRT2385454	hsa-miR-596	CLIP-seq
MIRT2385455	hsa-miR-649	CLIP-seq
MIRT2465029	hsa-miR-1269	CLIP-seq
MIRT2465030	hsa-miR-1269b	CLIP-seq
MIRT2465031	hsa-miR-4529-3p	CLIP-seq
MIRT2465029	hsa-miR-1269	CLIP-seq
MIRT2465030	hsa-miR-1269b	CLIP-seq
MIRT2465031	hsa-miR-4529-3p	CLIP-seq
MIRT2465029	hsa-miR-1269	CLIP-seq
MIRT2465030	hsa-miR-1269b	CLIP-seq
MIRT2465031	hsa-miR-4529-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005245	Function	Voltage-gated calcium channel activity	IBA	21873635
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	8071363
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005891	Component	Voltage-gated calcium channel complex	IEA
GO:0006816	Process	Calcium ion transport	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	IBA	21873635
GO:0022843	Function	Voltage-gated cation channel activity	IDA	30343943
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0045202	Component	Synapse	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0051899	Process	Membrane depolarization	TAS
GO:0070509	Process	Calcium ion import	IBA	21873635
GO:0070588	Process	Calcium ion transmembrane transport	IEA

Other IDs

• MIM: 601013
• HGNC: 1392
• e!Ensembl: ENSG00000198216

Protein

• UniProt ID: Q15878
• Protein name: Voltage-dependent R-type calcium channel subunit alpha-1E (Brain calcium channel II) (BII) (Calcium channel, L type, alpha-1 polypeptide, isoform 6) (Voltage-gated calcium channel subunit alpha Cav2.3)
• Protein function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter rel
• PDB: 3BXL, 7XLQ, 7YG5, 8EPL, 8EPM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00520	Ion_trans	88 → 362	Ion transport protein	Family
  PF00520	Ion_trans	475 → 714	Ion transport protein	Family
  PF00520	Ion_trans	1152 → 1433	Ion transport protein	Family
  PF00520	Ion_trans	1477 → 1734	Ion transport protein	Family
  PF16905	GPHH	1743 → 1796	Voltage-dependent L-type calcium channel, IQ-associated	Family
  PF08763	Ca_chan_IQ	1806 → 1883	Voltage gated calcium channel IQ domain	Domain

• Sequence:

  MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQ
  NCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPM
  SRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHF
  NTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGL
  EFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVL
  TVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERER
  VENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT
  EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYW
  IVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSF
  NCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSM
  KSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWN
  EVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEE
  EAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQ
  RTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGL
  ALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAG
  GGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDH
  ELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVV
  LTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPL
  VDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTN
  PIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFE
  MVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVL
  RVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTD
  SSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQH
  SVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLE
  KNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYY
  SAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILT
  DSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFI
  YAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEP
  DTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHH
  LDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAED
  MTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKA
  SDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPY
  LQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSN
  HGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSME
  RSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRC
  NSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLP
  PVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQ
  HASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPN
  GHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC

• Sequence length: 2313

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
Type II diabetes mellitus

Reactome:

Presynaptic depolarization and calcium channel opening
Regulation of insulin secretion

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
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	30343943
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325	30343943
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557	30343943
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	30343943
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease name	Disease term	dbSNP ID	References
Atrophy of corpus callosum	Atrophy of corpus callosum
Central visual impairment	Central visual impairment
Cerebral cortical atrophy	Cerebral cortical atrophy
Congenital contracture	Congenital contracture	rs146546544, rs149395405, rs1567961103	30343943
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	30718901
Spastic quadriplegia	Spastic Quadriplegia
Status epilepticus	Status Epilepticus