|
rs1000940
|
RABEP1
RABEP1 Metabolic-Immune Regulatory Variant
|
Intronic variant in RABEP1 associated with fasting glucose modulation under p...
|
Autoimmune Tolerance & T-Cell Regulation
|
|
Emerging
|
|
rs1044471
|
ADIPOR2
ADIPOR2 3'UTR variant
|
A common 3'UTR variant in the liver-expressed adiponectin receptor 2 gene; th...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs1058322
|
ADIPOR2
|
Intronic ADIPOR2 variant whose T allele reduces receptor expression in immune...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs10739076
|
PLGRKT
PLGRKT Plasminogen Receptor/Fibrinolysis
|
Intergenic PCOS susceptibility locus downstream of PLGRKT (plasminogen recept...
|
Fertility & Ovarian Function
|
|
Moderate
|
|
rs1063537
|
ADIPOQ
|
3'UTR variant in ADIPOQ that modulates adiponectin mRNA stability; the common...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs1044498
|
ENPP1
K121Q
|
ENPP1 K121Q variant that increases ENPP1 binding affinity to the insulin rece...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs10848554
|
ADIPOR2
|
Intronic ADIPOR2 variant co-associated with cardiovascular disease risk in in...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs10938397
|
GNPDA2
|
GIANT consortium GWAS obesity locus near GNPDA2 — affects hexosamine-pathway-...
|
Appetite & Obesity
|
|
Strong
|
|
rs10882283
|
RBP4
RBP4 rs10882283
|
5' UTR variant in RBP4 that influences expression of retinol binding protein ...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs11037909
|
EXT2
|
Intronic EXT2 variant associated with a modest increase in type 2 diabetes su...
|
Appetite & Obesity
|
|
Moderate
|
|
rs11061937
|
ADIPOR2
ADIPOR2 rs11061937
|
Intronic ADIPOR2 variant associated with cardiovascular disease risk in indiv...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs1137101
|
LEPR
Q223R (Gln223Arg)
|
Common leptin receptor variant in the leptin-binding domain affecting satiety...
|
Hormones & Sleep
|
|
Moderate
|
|
rs11061946
|
ADIPOR2
|
Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed ...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs12478601
|
THADA
THADA PCOS/Insulin Resistance
|
Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; th...
|
Fertility & Ovarian Function
|
|
Strong
|
|
rs1151996
|
PPARG
PPARG rs1151996
|
Intronic PPARG variant significantly associated with circulating vitamin D le...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs1152003
|
PPARG
|
PPARG 3'-flanking region variant — the G allele independently tags a PPARG re...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs12970134
|
MC4R
MC4R region variant
|
Near-gene variant ~188kb downstream of MC4R associated with increased waist c...
|
Appetite & Obesity
|
|
Strong
|
|
rs2972164
|
PPARG
|
Intronic PPARG variant associated with rate of change in insulin sensitivity ...
|
Liver Fat
|
|
Moderate
|
|
rs10885406
|
TCF7L2
TCF7L2 Wnt Signaling Depth Variant
|
Intronic TCF7L2 variant tagging the diabetes-risk haplotype and associated wi...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs11590235
|
SKI
|
TGF-beta signaling regulator variant identified as the top shared locus betwe...
|
Cardiomyopathy & Structural Heart
|
|
Moderate
|
|
rs116862713
|
PRKAB1
|
Rare AMPK beta-1 subunit variant linking central energy sensing to shared mig...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs12086634
|
HSD11B1
Intron 3 variant
|
Modulates local cortisol activation from cortisone in liver and adipose tissu...
|
Hormones & Sleep
|
|
Moderate
|
|
rs10954640
|
ENPP1
ENPP1 3'UTR Variant
|
Intergenic variant near ENPP1-associated regulatory loci; T allele is associa...
|
Blood Sugar & Diabetes
|
|
Emerging
|
|
rs1143699
|
PTPRS
PTPRS C/T (rs1143699)
|
Synonymous PTPRS variant associated with increased type 2 diabetes risk in me...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs11558471
|
SLC30A8
SLC30A8 Zinc Transport Depth Variant
|
3-prime UTR variant in the SLC30A8 zinc transporter gene that alters ZnT8 mRN...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs11868035
|
SREBF1
|
SREBF1 intronic/3'UTR variant affecting SREBP-1c expression, associated with ...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs2271194
|
ERBB3
ERBB3/RAB5B PCOS Metabolic
|
A splice-region variant at the ERBB3/RAB5B locus on chromosome 12q13.2, a rep...
|
Fertility & Ovarian Function
|
|
Strong
|
|
rs11705701
|
IGF2BP2
IGF2BP2 Insulin Signaling Variant
|
Upstream regulatory variant in IGF2BP2 that shifts mRNA isoform balance in ad...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs12490265
|
PPARG
PPARG Intronic Haplotype Variant
|
Intronic PPARG variant in a metabolic syndrome–associated haplotype block; th...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs12243326
|
TCF7L2
TCF7L2 Incretin Response Depth Variant
|
Intronic TCF7L2 depth variant replicated across multiple populations as a sec...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs12636454
|
PPARG
PPARG rs12636454
|
Intronic PPARG variant associated with modest reduction in type 2 diabetes ri...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs1805097
|
IRS2
Gly1057Asp
|
Missense IRS2 variant where Asp/Asp homozygotes are twice as likely to reach ...
|
Longevity & Aging
|
|
Moderate
|
|
rs12610022
|
INSR
|
Intronic INSR variant that may alter insulin receptor expression or isoform b...
|
Blood Sugar & Diabetes
|
|
Emerging
|
|
rs16861194
|
ADIPOQ
-11426A>G
|
Upstream promoter variant that reduces ADIPOQ transcription, lowering circula...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs16861205
|
ADIPOQ
|
Intronic ADIPOQ variant in LD with the promoter region; the minor A allele is...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs2943634
|
IRS1
|
Intergenic variant near IRS1 at 2q36.3 associated with ischemic stroke risk, ...
|
Coronary Artery Disease & Atherosclerosis
|
|
Moderate
|
|
rs4784165
|
TOX3
TOX3 rs4784165
|
Intronic PCOS susceptibility variant near TOX3; the G allele is associated wi...
|
Fertility & Ovarian Function
|
|
Moderate
|
|
rs16928751
|
ADIPOR2
ADIPOR2 CVD co-association variant
|
Synonymous coding variant in ADIPOR2 (Q265Q) that was co-associated with card...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs17036314
|
PPARG
|
Intronic PPARG variant — carriers of the C allele have elevated fasting gluco...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs476828
|
MC4R
MC4R-region BMI variant
|
Intergenic variant in the MC4R regulatory haplotype block, tagging the same a...
|
Appetite & Obesity
|
|
Strong
|
|
rs1495377
|
TSPAN8
|
Intronic variant in TSPAN8 (Tetraspanin 8) associated with reduced insulin se...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs2197076
|
FABP1
|
Intronic FABP1 variant associated with type 2 diabetes risk and insulin resis...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs16989673
|
PTPN1
1484insG
|
A guanine duplication in the 3'-UTR of PTPN1 (PTP1B) that increases mRNA stab...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs182052
|
ADIPOQ
ADIPOQ promoter -10066A>G
|
Intronic/promoter-region ADIPOQ variant where the A allele reduces circulatin...
|
Fat Storage & Energy
|
|
Strong
|
|
rs1862513
|
RETN
-420C>G
|
Promoter variant that increases resistin expression via Sp1/Sp3 transcription...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs1799817
|
INSR
His1085His
|
Synonymous variant in the tyrosine kinase domain of the insulin receptor; the...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs2241767
|
ADIPOQ
+349A>G
|
Intronic variant in the adiponectin gene associated with lower circulating ad...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs858518
|
SHBG
SHBG intronic regulatory variant
|
Intronic variant within the SHBG gene that participates in a haplotype (with ...
|
Reproductive Hormones
|
|
Moderate
|
|
rs1799999
|
PPP1R3A
Asp905Tyr
|
Missense variant in the skeletal muscle glycogen-targeting subunit of protein...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs2279525
|
PPARGC1A
PPARGC1A 3' UTR metabolic association variant
|
3' UTR variant in the PGC-1alpha gene that may alter PPARGC1A mRNA stability ...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs1800961
|
HNF4A
Thr130Ile
|
Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs2297508
|
SREBF1
SREBF1 G952G
|
SREBF1 3' UTR variant that subtly impairs SREBP-1c function, increasing risk ...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs6548238
|
TMEM18
|
Second strongest obesity GWAS locus after FTO - influences hypothalamic appet...
|
Appetite & Obesity
|
|
Strong
|
|
rs1801278
|
IRS1
Gly972Arg (G972R)
|
Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs7359397
|
SH2B1
SH2B1 C/T
|
Regulatory CpG-SNP downstream of SH2B1 that reduces gene expression via allel...
|
Appetite & Obesity
|
|
Moderate
|
|
rs2854117
|
APOC3
APOC3 C-482T
|
Promoter variant in APOC3 disrupting insulin-responsive regulation of apolipo...
|
Triglycerides & Fatty Acids
|
|
Moderate
|
|
rs7498665
|
SH2B1
Thr484Ala
|
Obesity GWAS missense variant in SH2B1 that impairs leptin signaling and incr...
|
Appetite & Obesity
|
|
Strong
|
|
rs2059807
|
INSR
INSR intronic variant
|
Intronic INSR variant associated with PCOS susceptibility and metabolic syndr...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs2229431
|
INSR
|
Synonymous exon 13 variant in the insulin receptor gene; the A allele has bee...
|
Blood Sugar & Diabetes
|
|
Emerging
|
|
rs2920502
|
PPARG
PPARG rs2920502
|
Intronic PPARG variant associated with body fat percentage, impaired glucose ...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs2233580
|
PAX4
Arg192His
|
Missense variant that impairs PAX4's ability to repress insulin and glucagon ...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs7799039
|
LEP
G-2548A
|
Promoter variant that increases leptin gene expression in adipose tissue, ele...
|
Appetite & Obesity
|
|
Moderate
|
|
rs2237886
|
KCNQ1
KCNQ1 Potassium Channel Diabetes Variant
|
Intronic variant in KCNQ1's imprinted region, tagging the same LD block as es...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs3758391
|
SIRT1
|
Promoter-region variant in SIRT1 affecting deacetylase expression; T allele e...
|
Longevity & Aging
|
|
Moderate
|
|
rs3734254
|
PPARD
T+294C
|
PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs2295490
|
TRIB3
Q84R
|
TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing ...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs3745012
|
LPIN2
LPIN2 3'UTR variant
|
3' UTR regulatory variant in LPIN2 (lipin 2) that alters fat distribution and...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs2466293
|
SLC30A8
SLC30A8 Islet Zinc Regulation Variant
|
3'UTR variant in the zinc transporter ZnT8 gene that disrupts miRNA binding s...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs3774261
|
ADIPOQ
ADIPOQ rs3774261
|
Intronic ADIPOQ variant that reduces circulating adiponectin levels in G alle...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs3856806
|
PPARG
His477His (C1431T)
|
Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and ...
|
Fat Storage & Energy
|
|
Strong
|
|
rs4684847
|
PPARG
PPARG cis-regulatory variant (PR domain recruitment)
|
Intronic cis-regulatory PPARG variant where the C allele recruits PR domain r...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs3487348
|
PTPN1
PTPN1 LD Block Co-Variant
|
Intronic PTPN1 variant in the 100-kb haplotype block; T allele associated wit...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs4684854
|
PPARG
|
Intergenic regulatory variant downstream of PPARG associated with central obe...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs367643250
|
DYRK1B
R102C
|
Rare gain-of-function variant causing autosomal dominant metabolic syndrome (...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs659366
|
UCP2
|
Promoter variant at position -866 of UCP2 that controls mitochondrial uncoupl...
|
Longevity & Aging
|
|
Moderate
|
|
rs3787345
|
PTPN1
PTPN1 LD Block Co-Variant
|
Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype b...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs3787348
|
PTPN1
PTPN1 intronic variant
|
Intronic PTPN1 tag SNP within the 100-kb insulin-resistance haplotype block; ...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs4783244
|
CDH13
|
Intronic CDH13 variant altering T-cadherin expression; T allele carriers have...
|
Triglycerides & Fatty Acids
|
|
Strong
|
|
rs6809631
|
PPARG
|
Intronic PPARG promoter tagSNP associated with modest reduction in type 2 dia...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs4807015
|
PTPRS
PTPRS T2D risk variant
|
Intronic PTPRS variant that tags elevated type 2 diabetes risk in both sexes ...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs6981587
|
ANK1
ANK1 small-ankyrin T2D locus variant
|
Intronic ANK1 variant at the NKX6-3/ANK1 type 2 diabetes locus; the T allele ...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs8192678
|
PPARGC1A
Gly482Ser
|
Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha...
|
Longevity & Aging
|
|
Strong
|
|
rs4812829
|
HNF4A
HNF4A Intronic T2D Risk Variant
|
Common intronic variant in HNF4A associated with modestly elevated type 2 dia...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs767870
|
ADIPOR2
ADIPOR2 intron 6 variant
|
Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced ...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs822391
|
ADIPOQ
IVS1+407C>T
|
Intronic variant in the adiponectin gene associated with circulating adiponec...
|
Fat Storage & Energy
|
|
Moderate
|
|
rs9491696
|
RSPO3
|
Intronic enhancer variant in RSPO3 that increases gene expression in adipocyt...
|
Fat Storage & Energy
|
|
Strong
|
|
rs9817428
|
PPARG
PPARG promoter tagSNP
|
Intronic PPARG tagSNP with cross-ethnic replication for type 2 diabetes risk ...
|
Fat Storage & Energy
|
|
Emerging
|
|
rs587777380
|
DYRK1B
H90P / H90R
|
Multi-allelic pathogenic locus — both H90P (T>G) and H90R (T>C) disrupt the D...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs6020611
|
PTPN1
|
Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele i...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs6031551
|
HNF4A
HNF4A Regulatory Variant
|
Intronic variant 80 bp from rs6031552 within the HNF4A P2 promoter haplotype ...
|
Blood Sugar & Diabetes
|
|
Emerging
|
|
rs6067484
|
PTPN1
PTPN1 rs6067484
|
Intronic PTPN1 tag SNP within the 100-kb T2D-risk haplotype block — carriers ...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs653178
|
SH2B3
ATXN2/SH2B3 12q24 pleiotropic locus
|
Pleiotropic 12q24 locus variant in SH2B3 (LNK) modulating JAK-STAT cytokine s...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs6815001
|
SLC2A9
SLC2A9 Renal Urate Clearance Variant
|
Intronic variant in the major renal urate transporter; the G allele tags a ha...
|
Blood Sugar & Diabetes
|
|
Strong
|
|
rs780095
|
GCKR
GCKR Glucose-Lipid Regulation Variant
|
Intronic GCKR enhancer variant on the CGG regulatory haplotype; the G allele ...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs914458
|
PTPN1
PTPN1 downstream variant
|
Downstream regulatory variant 10 kb 3' of PTPN1 (PTP1B) associated with type ...
|
Blood Sugar & Diabetes
|
|
Emerging
|
|
rs9402571
|
SGK1
|
Regulatory variant in SGK1 (serum/glucocorticoid regulated kinase 1) — the mi...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs941798
|
PTPN1
|
Intronic PTPN1 variant tagging a haplotype block associated with reduced insu...
|
Blood Sugar & Diabetes
|
|
Moderate
|