TBC1D4 (TBC1 domain family member 4)

Gene

• Entrez ID: 9882
• Gene name: TBC1 domain family member 4
• Gene symbol: TBC1D4
• Synonyms: AS160, NIDDM5
• Chromosome: 13
• Chromosome location: 13q22.2
• Summary: This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61736969	G>A,C	Pathogenic, benign, likely-benign	Missense variant, stop gained, genic upstream transcript variant, intron variant, coding sequence variant
rs199560195	C>A,T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027631	hsa-miR-98-5p	Microarray	19088304
MIRT028587	hsa-miR-30a-5p	Proteomics	18668040
MIRT031138	hsa-miR-19b-3p	Sequencing	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT561483	hsa-miR-4463	PAR-CLIP	20371350
MIRT561482	hsa-miR-4494	PAR-CLIP	20371350
MIRT561481	hsa-miR-4456	PAR-CLIP	20371350
MIRT561480	hsa-miR-8069	PAR-CLIP	20371350
MIRT561479	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT561478	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT561477	hsa-miR-1193	PAR-CLIP	20371350
MIRT561476	hsa-miR-1207-5p	PAR-CLIP	20371350
MIRT561475	hsa-miR-4763-3p	PAR-CLIP	20371350
MIRT561474	hsa-miR-4736	PAR-CLIP	20371350
MIRT561473	hsa-miR-7150	PAR-CLIP	20371350
MIRT561472	hsa-miR-29b-2-5p	PAR-CLIP	20371350
MIRT1413410	hsa-miR-1185	CLIP-seq
MIRT1413411	hsa-miR-1246	CLIP-seq
MIRT1413412	hsa-miR-128	CLIP-seq
MIRT1413413	hsa-miR-1324	CLIP-seq
MIRT1413414	hsa-miR-23a	CLIP-seq
MIRT1413415	hsa-miR-23b	CLIP-seq
MIRT1413416	hsa-miR-23c	CLIP-seq
MIRT1413417	hsa-miR-27a	CLIP-seq
MIRT1413418	hsa-miR-27b	CLIP-seq
MIRT1413419	hsa-miR-3166	CLIP-seq
MIRT1413420	hsa-miR-3200-3p	CLIP-seq
MIRT1413421	hsa-miR-323-3p	CLIP-seq
MIRT1413422	hsa-miR-329	CLIP-seq
MIRT1413423	hsa-miR-3605-5p	CLIP-seq
MIRT1413424	hsa-miR-362-3p	CLIP-seq
MIRT1413425	hsa-miR-3653	CLIP-seq
MIRT1413426	hsa-miR-3658	CLIP-seq
MIRT1413427	hsa-miR-3674	CLIP-seq
MIRT1413428	hsa-miR-3675-5p	CLIP-seq
MIRT1413429	hsa-miR-3679-5p	CLIP-seq
MIRT1413430	hsa-miR-375	CLIP-seq
MIRT1413431	hsa-miR-376a	CLIP-seq
MIRT1413432	hsa-miR-376b	CLIP-seq
MIRT1413433	hsa-miR-3915	CLIP-seq
MIRT1413434	hsa-miR-3921	CLIP-seq
MIRT1413435	hsa-miR-3925-5p	CLIP-seq
MIRT1413436	hsa-miR-3927	CLIP-seq
MIRT1413437	hsa-miR-3928	CLIP-seq
MIRT1413438	hsa-miR-3929	CLIP-seq
MIRT1413439	hsa-miR-3941	CLIP-seq
MIRT1413440	hsa-miR-4277	CLIP-seq
MIRT1413441	hsa-miR-4279	CLIP-seq
MIRT1413442	hsa-miR-4310	CLIP-seq
MIRT1413443	hsa-miR-4311	CLIP-seq
MIRT1413444	hsa-miR-4320	CLIP-seq
MIRT1413445	hsa-miR-4326	CLIP-seq
MIRT1413446	hsa-miR-4419b	CLIP-seq
MIRT1413447	hsa-miR-4451	CLIP-seq
MIRT1413448	hsa-miR-4477b	CLIP-seq
MIRT1413449	hsa-miR-4478	CLIP-seq
MIRT1413450	hsa-miR-4519	CLIP-seq
MIRT1413451	hsa-miR-4528	CLIP-seq
MIRT1413452	hsa-miR-4653-5p	CLIP-seq
MIRT1413453	hsa-miR-4670-3p	CLIP-seq
MIRT1413454	hsa-miR-4680-3p	CLIP-seq
MIRT1413455	hsa-miR-4709-3p	CLIP-seq
MIRT1413456	hsa-miR-4724-3p	CLIP-seq
MIRT1413457	hsa-miR-4724-5p	CLIP-seq
MIRT1413458	hsa-miR-4738-3p	CLIP-seq
MIRT1413459	hsa-miR-4766-3p	CLIP-seq
MIRT1413460	hsa-miR-4766-5p	CLIP-seq
MIRT1413461	hsa-miR-4777-5p	CLIP-seq
MIRT1413462	hsa-miR-4789-5p	CLIP-seq
MIRT1413463	hsa-miR-4790-3p	CLIP-seq
MIRT1413464	hsa-miR-486-3p	CLIP-seq
MIRT1413465	hsa-miR-511	CLIP-seq
MIRT1413466	hsa-miR-513a-3p	CLIP-seq
MIRT1413467	hsa-miR-513a-5p	CLIP-seq
MIRT1413468	hsa-miR-518d-5p	CLIP-seq
MIRT1413469	hsa-miR-519b-5p	CLIP-seq
MIRT1413470	hsa-miR-519c-5p	CLIP-seq
MIRT1413471	hsa-miR-520c-5p	CLIP-seq
MIRT1413472	hsa-miR-526a	CLIP-seq
MIRT1413473	hsa-miR-543	CLIP-seq
MIRT1413474	hsa-miR-548ag	CLIP-seq
MIRT1413475	hsa-miR-548ai	CLIP-seq
MIRT1413476	hsa-miR-548g	CLIP-seq
MIRT1413477	hsa-miR-603	CLIP-seq
MIRT1413478	hsa-miR-610	CLIP-seq
MIRT1413479	hsa-miR-769-5p	CLIP-seq
MIRT2124073	hsa-miR-1206	CLIP-seq
MIRT1413412	hsa-miR-128	CLIP-seq
MIRT2124074	hsa-miR-132	CLIP-seq
MIRT2124075	hsa-miR-194	CLIP-seq
MIRT2124076	hsa-miR-212	CLIP-seq
MIRT2124077	hsa-miR-216a	CLIP-seq
MIRT2124078	hsa-miR-216b	CLIP-seq
MIRT1413417	hsa-miR-27a	CLIP-seq
MIRT1413418	hsa-miR-27b	CLIP-seq
MIRT2124079	hsa-miR-3065-5p	CLIP-seq
MIRT2124080	hsa-miR-3127-5p	CLIP-seq
MIRT2124081	hsa-miR-3189-3p	CLIP-seq
MIRT1413422	hsa-miR-329	CLIP-seq
MIRT2124082	hsa-miR-345	CLIP-seq
MIRT2124083	hsa-miR-3591-3p	CLIP-seq
MIRT2124084	hsa-miR-3618	CLIP-seq
MIRT1413424	hsa-miR-362-3p	CLIP-seq
MIRT1413430	hsa-miR-375	CLIP-seq
MIRT1413434	hsa-miR-3921	CLIP-seq
MIRT1413439	hsa-miR-3941	CLIP-seq
MIRT2124085	hsa-miR-410	CLIP-seq
MIRT2124086	hsa-miR-4256	CLIP-seq
MIRT1413440	hsa-miR-4277	CLIP-seq
MIRT1413445	hsa-miR-4326	CLIP-seq
MIRT2124087	hsa-miR-433	CLIP-seq
MIRT1413451	hsa-miR-4528	CLIP-seq
MIRT2124088	hsa-miR-4539	CLIP-seq
MIRT1413452	hsa-miR-4653-5p	CLIP-seq
MIRT1413453	hsa-miR-4670-3p	CLIP-seq
MIRT1413462	hsa-miR-4789-5p	CLIP-seq
MIRT2124089	hsa-miR-502-5p	CLIP-seq
MIRT1413467	hsa-miR-513a-5p	CLIP-seq
MIRT2124090	hsa-miR-548aa	CLIP-seq
MIRT2124091	hsa-miR-548ac	CLIP-seq
MIRT2124092	hsa-miR-548d-3p	CLIP-seq
MIRT2124093	hsa-miR-548z	CLIP-seq
MIRT2124094	hsa-miR-555	CLIP-seq
MIRT2124095	hsa-miR-579	CLIP-seq
MIRT1413477	hsa-miR-603	CLIP-seq
MIRT2124096	hsa-miR-658	CLIP-seq
MIRT2124097	hsa-miR-664	CLIP-seq
MIRT2346422	hsa-miR-1236	CLIP-seq
MIRT2346423	hsa-miR-1245b-3p	CLIP-seq
MIRT1413412	hsa-miR-128	CLIP-seq
MIRT2346424	hsa-miR-1290	CLIP-seq
MIRT2346425	hsa-miR-1305	CLIP-seq
MIRT2124074	hsa-miR-132	CLIP-seq
MIRT2346426	hsa-miR-134	CLIP-seq
MIRT2346427	hsa-miR-142-5p	CLIP-seq
MIRT2124075	hsa-miR-194	CLIP-seq
MIRT2124076	hsa-miR-212	CLIP-seq
MIRT2124077	hsa-miR-216a	CLIP-seq
MIRT2124078	hsa-miR-216b	CLIP-seq
MIRT1413417	hsa-miR-27a	CLIP-seq
MIRT1413418	hsa-miR-27b	CLIP-seq
MIRT2124079	hsa-miR-3065-5p	CLIP-seq
MIRT2346428	hsa-miR-3118	CLIP-seq
MIRT2346429	hsa-miR-3121-5p	CLIP-seq
MIRT2346430	hsa-miR-3124-3p	CLIP-seq
MIRT2346431	hsa-miR-3137	CLIP-seq
MIRT2346432	hsa-miR-3155	CLIP-seq
MIRT2346433	hsa-miR-3155b	CLIP-seq
MIRT2346434	hsa-miR-3167	CLIP-seq
MIRT2346435	hsa-miR-3183	CLIP-seq
MIRT2124081	hsa-miR-3189-3p	CLIP-seq
MIRT2346436	hsa-miR-3194-3p	CLIP-seq
MIRT1413422	hsa-miR-329	CLIP-seq
MIRT2124083	hsa-miR-3591-3p	CLIP-seq
MIRT2124084	hsa-miR-3618	CLIP-seq
MIRT2346437	hsa-miR-3622b-5p	CLIP-seq
MIRT1413424	hsa-miR-362-3p	CLIP-seq
MIRT2346438	hsa-miR-3650	CLIP-seq
MIRT2346439	hsa-miR-3683	CLIP-seq
MIRT2346440	hsa-miR-3691-5p	CLIP-seq
MIRT1413430	hsa-miR-375	CLIP-seq
MIRT2346441	hsa-miR-376c	CLIP-seq
MIRT2346442	hsa-miR-3911	CLIP-seq
MIRT1413434	hsa-miR-3921	CLIP-seq
MIRT1413439	hsa-miR-3941	CLIP-seq
MIRT2346443	hsa-miR-3942-3p	CLIP-seq
MIRT2346444	hsa-miR-409-3p	CLIP-seq
MIRT2124085	hsa-miR-410	CLIP-seq
MIRT2346445	hsa-miR-421	CLIP-seq
MIRT1413440	hsa-miR-4277	CLIP-seq
MIRT1413445	hsa-miR-4326	CLIP-seq
MIRT2124087	hsa-miR-433	CLIP-seq
MIRT2124088	hsa-miR-4539	CLIP-seq
MIRT2346446	hsa-miR-4640-5p	CLIP-seq
MIRT2346447	hsa-miR-4642	CLIP-seq
MIRT1413452	hsa-miR-4653-5p	CLIP-seq
MIRT1413453	hsa-miR-4670-3p	CLIP-seq
MIRT2346448	hsa-miR-4723-3p	CLIP-seq
MIRT1413456	hsa-miR-4724-3p	CLIP-seq
MIRT2346449	hsa-miR-4726-5p	CLIP-seq
MIRT2346450	hsa-miR-4752	CLIP-seq
MIRT1413462	hsa-miR-4789-5p	CLIP-seq
MIRT1413463	hsa-miR-4790-3p	CLIP-seq
MIRT2346451	hsa-miR-484	CLIP-seq
MIRT1413467	hsa-miR-513a-5p	CLIP-seq
MIRT2124090	hsa-miR-548aa	CLIP-seq
MIRT2124091	hsa-miR-548ac	CLIP-seq
MIRT2124092	hsa-miR-548d-3p	CLIP-seq
MIRT2124093	hsa-miR-548z	CLIP-seq
MIRT2124094	hsa-miR-555	CLIP-seq
MIRT1413477	hsa-miR-603	CLIP-seq
MIRT2346452	hsa-miR-618	CLIP-seq
MIRT2346453	hsa-miR-630	CLIP-seq
MIRT2346454	hsa-miR-635	CLIP-seq
MIRT2124096	hsa-miR-658	CLIP-seq
MIRT2346455	hsa-miR-876-5p	CLIP-seq
MIRT2346456	hsa-miR-9	CLIP-seq
MIRT2346445	hsa-miR-421	CLIP-seq
MIRT2395549	hsa-miR-4709-5p	CLIP-seq
MIRT2639086	hsa-miR-1270	CLIP-seq
MIRT2639087	hsa-miR-2116	CLIP-seq
MIRT2639088	hsa-miR-3647-3p	CLIP-seq
MIRT2639089	hsa-miR-369-3p	CLIP-seq
MIRT2639090	hsa-miR-374a	CLIP-seq
MIRT2639091	hsa-miR-374b	CLIP-seq
MIRT2639092	hsa-miR-4434	CLIP-seq
MIRT2639093	hsa-miR-4516	CLIP-seq
MIRT2639094	hsa-miR-4531	CLIP-seq
MIRT2639095	hsa-miR-4677-5p	CLIP-seq
MIRT2639096	hsa-miR-494	CLIP-seq
MIRT2639097	hsa-miR-620	CLIP-seq
MIRT2346456	hsa-miR-9	CLIP-seq
MIRT2639088	hsa-miR-3647-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	15161933, 28514442
GO:0005829	Component	Cytosol	IDA
GO:0006886	Process	Intracellular protein transport	IBA	21873635
GO:0016192	Process	Vesicle-mediated transport	IMP	22908308
GO:0031339	Process	Negative regulation of vesicle fusion	IEA
GO:0031982	Component	Vesicle	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IMP	22908308
GO:0090630	Process	Activation of GTPase activity	IBA	21873635

Other IDs

• MIM: 612465
• HGNC: 19165
• e!Ensembl: ENSG00000136111

Protein

• UniProt ID: O60343
• Protein name: TBC1 domain family member 4 (Akt substrate of 160 kDa) (AS160)
• Protein function: May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake. {ECO:0000269|PubMed:15971998, ECO
• PDB: 3QYB, 7NIX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00640	PID	108 → 187	Phosphotyrosine interaction domain (PTB/PID)	Domain
  PF00640	PID	311 → 447	Phosphotyrosine interaction domain (PTB/PID)	Domain
  PF11830	DUF3350	801 → 864	Domain of unknown function (DUF3350)	Family
  PF00566	RabGAP-TBC	921 → 1132	Rab-GTPase-TBC domain	Family

• Sequence:

  MEPPSCIQDEPFPHPLEPEPGVSAQPGPGKPSDKRFRLWYVGGSCLDHRTTLPMLPWLMA
  EIRRRSQKPEAGGCGAPAAREVILVLSAPFLRCVPAPGAGASGGTSPSATQPNPAVFIFE
  HKAQHISRFIHNSHDLTYFAYLIKAQPDDPESQMACHVFRATDPSQVPDVISSIRQLSKA
  AMKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQ
  GEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERI
  LEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQ
  VGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQC
  ASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVI
  QRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTIS
  NSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLAS
  EKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGR
  AQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQN
  SGRLSPQYENEIRQDTASESSDGEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRV
  ASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELR
  SLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNC
  RAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLT
  AQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLL
  HMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISP
  SLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENI
  VEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLE
  KLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQK
  TVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP

• Sequence length: 1298

Pathways

KEGG:

Thyroid hormone signaling pathway
Insulin resistance
Diabetic cardiomyopathy

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261

Unknown
Disease name	Disease term	dbSNP ID	References
Diabetic retinopathy	Diabetic Retinopathy		23562823