UCP2 (uncoupling protein 2)

Gene

• Entrez ID: 7351
• Gene name: Uncoupling protein 2
• Gene symbol: UCP2
• Synonyms: BMIQ4, SLC25A8, UCPH
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proto

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs659366	C>T	Risk-factor	Upstream transcript variant
rs371789455	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004046	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR	21146880
MIRT004046	hsa-miR-15a-5p	Luciferase reporter assay, qRT-PCR	21146880
MIRT042197	hsa-miR-484	CLASH	23622248
MIRT000330	hsa-miR-133a-3p	Western blot	23988448
MIRT000330	hsa-miR-133a-3p	Western blot	23988448
MIRT494913	hsa-miR-6758-5p	PAR-CLIP	23708386
MIRT494912	hsa-miR-6856-5p	PAR-CLIP	23708386
MIRT494910	hsa-miR-6873-5p	PAR-CLIP	23708386
MIRT494911	hsa-miR-1321	PAR-CLIP	23708386
MIRT494909	hsa-miR-4739	PAR-CLIP	23708386
MIRT494908	hsa-miR-4756-5p	PAR-CLIP	23708386
MIRT494907	hsa-miR-3150b-3p	PAR-CLIP	23708386
MIRT494906	hsa-miR-4784	PAR-CLIP	23708386
MIRT494905	hsa-miR-4419a	PAR-CLIP	23708386
MIRT494904	hsa-miR-4510	PAR-CLIP	23708386
MIRT494903	hsa-miR-6127	PAR-CLIP	23708386
MIRT494902	hsa-miR-6129	PAR-CLIP	23708386
MIRT494901	hsa-miR-6130	PAR-CLIP	23708386
MIRT494900	hsa-miR-6133	PAR-CLIP	23708386
MIRT494899	hsa-miR-139-3p	PAR-CLIP	23708386
MIRT494898	hsa-miR-765	PAR-CLIP	23708386
MIRT494897	hsa-miR-7106-5p	PAR-CLIP	23708386
MIRT494913	hsa-miR-6758-5p	PAR-CLIP	23708386
MIRT494912	hsa-miR-6856-5p	PAR-CLIP	23708386
MIRT494910	hsa-miR-6873-5p	PAR-CLIP	23708386
MIRT494911	hsa-miR-1321	PAR-CLIP	23708386
MIRT494909	hsa-miR-4739	PAR-CLIP	23708386
MIRT494908	hsa-miR-4756-5p	PAR-CLIP	23708386
MIRT494907	hsa-miR-3150b-3p	PAR-CLIP	23708386
MIRT494906	hsa-miR-4784	PAR-CLIP	23708386
MIRT494905	hsa-miR-4419a	PAR-CLIP	23708386
MIRT494904	hsa-miR-4510	PAR-CLIP	23708386
MIRT494903	hsa-miR-6127	PAR-CLIP	23708386
MIRT494902	hsa-miR-6129	PAR-CLIP	23708386
MIRT494901	hsa-miR-6130	PAR-CLIP	23708386
MIRT494900	hsa-miR-6133	PAR-CLIP	23708386
MIRT494899	hsa-miR-139-3p	PAR-CLIP	23708386
MIRT494898	hsa-miR-765	PAR-CLIP	23708386
MIRT494897	hsa-miR-7106-5p	PAR-CLIP	23708386
MIRT1472728	hsa-miR-1226	CLIP-seq
MIRT1472729	hsa-miR-1252	CLIP-seq
MIRT1472730	hsa-miR-1286	CLIP-seq
MIRT1472731	hsa-miR-149	CLIP-seq
MIRT1472732	hsa-miR-1587	CLIP-seq
MIRT1472733	hsa-miR-15a	CLIP-seq
MIRT1472734	hsa-miR-15b	CLIP-seq
MIRT1472735	hsa-miR-16	CLIP-seq
MIRT1472736	hsa-miR-188-3p	CLIP-seq
MIRT1472737	hsa-miR-195	CLIP-seq
MIRT1472738	hsa-miR-2110	CLIP-seq
MIRT1472739	hsa-miR-214	CLIP-seq
MIRT1472740	hsa-miR-3064-5p	CLIP-seq
MIRT1472741	hsa-miR-3153	CLIP-seq
MIRT1472742	hsa-miR-3619-5p	CLIP-seq
MIRT1472743	hsa-miR-3652	CLIP-seq
MIRT1472744	hsa-miR-3668	CLIP-seq
MIRT1472745	hsa-miR-378g	CLIP-seq
MIRT1472746	hsa-miR-383	CLIP-seq
MIRT1472747	hsa-miR-3929	CLIP-seq
MIRT1472748	hsa-miR-424	CLIP-seq
MIRT1472749	hsa-miR-4257	CLIP-seq
MIRT1472750	hsa-miR-4271	CLIP-seq
MIRT1472751	hsa-miR-4291	CLIP-seq
MIRT1472752	hsa-miR-4329	CLIP-seq
MIRT1472753	hsa-miR-4417	CLIP-seq
MIRT1472754	hsa-miR-4419b	CLIP-seq
MIRT1472755	hsa-miR-4430	CLIP-seq
MIRT737925	hsa-miR-4475	CLIP-seq
MIRT1472756	hsa-miR-4478	CLIP-seq
MIRT1472757	hsa-miR-4492	CLIP-seq
MIRT1472758	hsa-miR-4498	CLIP-seq
MIRT1472759	hsa-miR-4505	CLIP-seq
MIRT1472760	hsa-miR-450b-3p	CLIP-seq
MIRT1472761	hsa-miR-4533	CLIP-seq
MIRT1472762	hsa-miR-4536	CLIP-seq
MIRT737924	hsa-miR-4539	CLIP-seq
MIRT1472763	hsa-miR-4656	CLIP-seq
MIRT1472764	hsa-miR-4675	CLIP-seq
MIRT1472765	hsa-miR-4699-5p	CLIP-seq
MIRT1472766	hsa-miR-4713-3p	CLIP-seq
MIRT1472767	hsa-miR-4722-5p	CLIP-seq
MIRT1472768	hsa-miR-4725-3p	CLIP-seq
MIRT1472769	hsa-miR-4741	CLIP-seq
MIRT1472770	hsa-miR-4747-5p	CLIP-seq
MIRT1472771	hsa-miR-4768-3p	CLIP-seq
MIRT1472772	hsa-miR-4772-5p	CLIP-seq
MIRT1472773	hsa-miR-4787-5p	CLIP-seq
MIRT1472774	hsa-miR-4794	CLIP-seq
MIRT1472775	hsa-miR-486-3p	CLIP-seq
MIRT1472776	hsa-miR-491-5p	CLIP-seq
MIRT1472777	hsa-miR-497	CLIP-seq
MIRT1472778	hsa-miR-532-3p	CLIP-seq
MIRT1472779	hsa-miR-580	CLIP-seq
MIRT1472780	hsa-miR-583	CLIP-seq
MIRT1472781	hsa-miR-634	CLIP-seq
MIRT1472782	hsa-miR-638	CLIP-seq
MIRT1472783	hsa-miR-645	CLIP-seq
MIRT1472784	hsa-miR-761	CLIP-seq
MIRT1472785	hsa-miR-762	CLIP-seq
MIRT1472786	hsa-miR-769-3p	CLIP-seq
MIRT1472787	hsa-miR-922	CLIP-seq
MIRT737925	hsa-miR-4475	CLIP-seq
MIRT737924	hsa-miR-4539	CLIP-seq
MIRT2142344	hsa-miR-105	CLIP-seq
MIRT1472728	hsa-miR-1226	CLIP-seq
MIRT2142345	hsa-miR-1246	CLIP-seq
MIRT2142346	hsa-miR-1255a	CLIP-seq
MIRT2142347	hsa-miR-1255b	CLIP-seq
MIRT1472730	hsa-miR-1286	CLIP-seq
MIRT1472731	hsa-miR-149	CLIP-seq
MIRT1472732	hsa-miR-1587	CLIP-seq
MIRT1472739	hsa-miR-214	CLIP-seq
MIRT1472740	hsa-miR-3064-5p	CLIP-seq
MIRT1472742	hsa-miR-3619-5p	CLIP-seq
MIRT1472745	hsa-miR-378g	CLIP-seq
MIRT1472746	hsa-miR-383	CLIP-seq
MIRT1472747	hsa-miR-3929	CLIP-seq
MIRT1472749	hsa-miR-4257	CLIP-seq
MIRT1472751	hsa-miR-4291	CLIP-seq
MIRT1472752	hsa-miR-4329	CLIP-seq
MIRT1472753	hsa-miR-4417	CLIP-seq
MIRT1472754	hsa-miR-4419b	CLIP-seq
MIRT737925	hsa-miR-4475	CLIP-seq
MIRT1472756	hsa-miR-4478	CLIP-seq
MIRT1472757	hsa-miR-4492	CLIP-seq
MIRT1472758	hsa-miR-4498	CLIP-seq
MIRT1472759	hsa-miR-4505	CLIP-seq
MIRT1472762	hsa-miR-4536	CLIP-seq
MIRT737924	hsa-miR-4539	CLIP-seq
MIRT1472763	hsa-miR-4656	CLIP-seq
MIRT1472764	hsa-miR-4675	CLIP-seq
MIRT1472765	hsa-miR-4699-5p	CLIP-seq
MIRT1472769	hsa-miR-4741	CLIP-seq
MIRT1472770	hsa-miR-4747-5p	CLIP-seq
MIRT1472772	hsa-miR-4772-5p	CLIP-seq
MIRT1472773	hsa-miR-4787-5p	CLIP-seq
MIRT1472774	hsa-miR-4794	CLIP-seq
MIRT1472775	hsa-miR-486-3p	CLIP-seq
MIRT2142348	hsa-miR-505	CLIP-seq
MIRT1472779	hsa-miR-580	CLIP-seq
MIRT1472780	hsa-miR-583	CLIP-seq
MIRT1472781	hsa-miR-634	CLIP-seq
MIRT1472783	hsa-miR-645	CLIP-seq
MIRT1472784	hsa-miR-761	CLIP-seq
MIRT1472785	hsa-miR-762	CLIP-seq
MIRT1472787	hsa-miR-922	CLIP-seq
MIRT2142344	hsa-miR-105	CLIP-seq
MIRT1472728	hsa-miR-1226	CLIP-seq
MIRT1472729	hsa-miR-1252	CLIP-seq
MIRT2142346	hsa-miR-1255a	CLIP-seq
MIRT2142347	hsa-miR-1255b	CLIP-seq
MIRT1472730	hsa-miR-1286	CLIP-seq
MIRT1472731	hsa-miR-149	CLIP-seq
MIRT2362880	hsa-miR-1538	CLIP-seq
MIRT1472732	hsa-miR-1587	CLIP-seq
MIRT1472733	hsa-miR-15a	CLIP-seq
MIRT1472734	hsa-miR-15b	CLIP-seq
MIRT1472735	hsa-miR-16	CLIP-seq
MIRT1472736	hsa-miR-188-3p	CLIP-seq
MIRT1472737	hsa-miR-195	CLIP-seq
MIRT1472739	hsa-miR-214	CLIP-seq
MIRT1472740	hsa-miR-3064-5p	CLIP-seq
MIRT1472742	hsa-miR-3619-5p	CLIP-seq
MIRT1472743	hsa-miR-3652	CLIP-seq
MIRT1472744	hsa-miR-3668	CLIP-seq
MIRT1472745	hsa-miR-378g	CLIP-seq
MIRT1472746	hsa-miR-383	CLIP-seq
MIRT1472747	hsa-miR-3929	CLIP-seq
MIRT1472748	hsa-miR-424	CLIP-seq
MIRT1472749	hsa-miR-4257	CLIP-seq
MIRT1472751	hsa-miR-4291	CLIP-seq
MIRT1472752	hsa-miR-4329	CLIP-seq
MIRT1472753	hsa-miR-4417	CLIP-seq
MIRT1472754	hsa-miR-4419b	CLIP-seq
MIRT1472755	hsa-miR-4430	CLIP-seq
MIRT737925	hsa-miR-4475	CLIP-seq
MIRT1472756	hsa-miR-4478	CLIP-seq
MIRT1472757	hsa-miR-4492	CLIP-seq
MIRT1472758	hsa-miR-4498	CLIP-seq
MIRT1472759	hsa-miR-4505	CLIP-seq
MIRT1472760	hsa-miR-450b-3p	CLIP-seq
MIRT1472761	hsa-miR-4533	CLIP-seq
MIRT1472762	hsa-miR-4536	CLIP-seq
MIRT737924	hsa-miR-4539	CLIP-seq
MIRT1472763	hsa-miR-4656	CLIP-seq
MIRT1472764	hsa-miR-4675	CLIP-seq
MIRT1472765	hsa-miR-4699-5p	CLIP-seq
MIRT1472766	hsa-miR-4713-3p	CLIP-seq
MIRT1472767	hsa-miR-4722-5p	CLIP-seq
MIRT1472769	hsa-miR-4741	CLIP-seq
MIRT2362881	hsa-miR-4745-3p	CLIP-seq
MIRT1472770	hsa-miR-4747-5p	CLIP-seq
MIRT1472771	hsa-miR-4768-3p	CLIP-seq
MIRT1472772	hsa-miR-4772-5p	CLIP-seq
MIRT1472773	hsa-miR-4787-5p	CLIP-seq
MIRT1472774	hsa-miR-4794	CLIP-seq
MIRT1472775	hsa-miR-486-3p	CLIP-seq
MIRT1472776	hsa-miR-491-5p	CLIP-seq
MIRT1472777	hsa-miR-497	CLIP-seq
MIRT2142348	hsa-miR-505	CLIP-seq
MIRT1472778	hsa-miR-532-3p	CLIP-seq
MIRT1472779	hsa-miR-580	CLIP-seq
MIRT1472780	hsa-miR-583	CLIP-seq
MIRT1472781	hsa-miR-634	CLIP-seq
MIRT1472782	hsa-miR-638	CLIP-seq
MIRT1472783	hsa-miR-645	CLIP-seq
MIRT1472784	hsa-miR-761	CLIP-seq
MIRT1472785	hsa-miR-762	CLIP-seq
MIRT1472786	hsa-miR-769-3p	CLIP-seq
MIRT1472787	hsa-miR-922	CLIP-seq
MIRT1472728	hsa-miR-1226	CLIP-seq
MIRT1472752	hsa-miR-4329	CLIP-seq
MIRT737925	hsa-miR-4475	CLIP-seq
MIRT737924	hsa-miR-4539	CLIP-seq
MIRT2142348	hsa-miR-505	CLIP-seq
MIRT1472781	hsa-miR-634	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SMAD4	Unknown	21935467
STAT3	Repression	21344490

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000303	Process	Response to superoxide	IEA
GO:0001666	Process	Response to hypoxia	IDA	22292025
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0007565	Process	Female pregnancy	IEA
GO:0007568	Process	Aging	IEA
GO:0009409	Process	Response to cold	IBA	21873635
GO:0010942	Process	Positive regulation of cell death	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0017077	Function	Oxidative phosphorylation uncoupler activity	IBA	21873635
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0034198	Process	Cellular response to amino acid starvation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0061179	Process	Negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0070542	Process	Response to fatty acid	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	28130074
GO:1902600	Process	Proton transmembrane transport	TAS
GO:1990542	Process	Mitochondrial transmembrane transport	IBA	21873635
GO:1990845	Process	Adaptive thermogenesis	IBA	21873635

Other IDs

• MIM: 601693
• HGNC: 12518
• e!Ensembl: ENSG00000175567

Protein

• UniProt ID: P55851
• Protein name: Dicarboxylate carrier SLC25A8 (Mitochondrial uncoupling protein 2) (UCP 2) (Solute carrier family 25 member 8) (UCPH)
• Protein function: Antiporter that exports dicarboxylate intermediates of the Krebs cycle in exchange for phosphate plus a proton across the inner membrane of mitochondria, a process driven by mitochondrial motive force with an overall impact on glycolysis, glutam
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00153	Mito_carr	10 → 111	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	112 → 208	Mitochondrial carrier protein	Family
  PF00153	Mito_carr	211 → 301	Mitochondrial carrier protein	Family

• Sequence:

  MVGFKATDVPPTATVKFLGAGTAACIADLITFPLDTAKVRLQIQGESQGPVRATASAQYR
  GVMGTILTMVRTEGPRSLYNGLVAGLQRQMSFASVRIGLYDSVKQFYTKGSEHASIGSRL
  LAGSTTGALAVAVAQPTDVVKVRFQAQARAGGGRRYQSTVNAYKTIAREEGFRGLWKGTS
  PNVARNAIVNCAELVTYDLIKDALLKANLMTDDLPCHFTSAFGAGFCTTVIASPVDVVKT
  RYMNSALGQYSSAGHCALTMLQKEGPRAFYKGFMPSFLRLGSWNVVMFVTYEQLKRALMA
  ACTSREAPF

• Sequence length: 309

Pathways

Reactome:

The fatty acid cycling model
The proton buffering model

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	16316942
Hyperinsulinemic hypoglycemia	Congenital Hyperinsulinism, Hyperinsulinemic hypoglycemia	rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402, rs980458021, rs375717077, rs786200932, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs151344624, rs797045637, rs797045212, rs797045211, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs886039877, rs886041392, rs886041391, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs766891274, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1398546361, rs781617345
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
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	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	15562023, 16123366
Hyperinsulinism	Hyperinsulinism, Hyperinsulinism due to UCP2 deficiency, Hyperinsulinism due to uncoupling protein 2 deficiency	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180	19065272, 19065272, 25733449
Hypertension	Hypertensive disease	rs13306026, rs13333226	16685210
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	11381268
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	22001364, 17066476

Unknown
Disease name	Disease term	dbSNP ID	References
Anaplastic carcinoma	Anaplastic carcinoma		16316942
Bipolar disorder	Bipolar Disorder		22001364
Cerebral ischemia	Brain Ischemia		17052689
Fatty liver	Fatty Liver, Steatohepatitis		10860543
Growth hormone deficiency	Secondary growth hormone deficiency
Hypoglycemia	Neonatal hypoglycemia
Stroke	Cerebrovascular accident, Acute Cerebrovascular Accidents		12858170