Research
Tag

Diabetes

174 genetic variants with this tag.

RSID Gene Description Category
rs10010131 WFS1 WFS1 Intron 4 T2D Risk Variant Intronic variant in WFS1 (wolframin) on chromosome 4q22, one of the earliest ... Blood Sugar & Diabetes Strong
rs10305420 GLP1R Pro7Leu GLP-1 receptor signal peptide variant that enhances semaglutide and tirzepati... Pharmacogenomics Moderate
rs10195252 GRB14/COBLL1 Intergenic variant between GRB14 and COBLL1 that acts as an eQTL for GRB14 in... Blood Sugar & Diabetes Strong
rs10305492 GLP1R A316T Rare protective missense variant in the GLP-1 receptor associated with lower ... Pharmacogenomics Strong
rs10278336 YKT6 GCK-Region Intronic Variant Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWA... Blood Sugar & Diabetes Moderate
rs10515237 PCSK1 PCSK1 A/G (rs10515237) Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, red... Appetite & Obesity Moderate
rs1042044 GLP1R Leu260Phe GLP-1 receptor variant in intracellular loop 2 that alters receptor surface e... Pharmacogenomics Moderate
rs10423928 GIPR Intronic GIPR variant that reduces functional GIP receptor expression via alt... Blood Sugar & Diabetes Strong
rs1063537 ADIPOQ 3'UTR variant in ADIPOQ that modulates adiponectin mRNA stability; the common... Fat Storage & Energy Moderate
rs10766383 NUCB2 Intronic NUCB2 variant associated with type 2 diabetes risk in females and or... Hormones & Sleep Moderate
rs10767664 BDNF Obesity GWAS locus in a conserved BDNF enhancer - reduces hypothalamic BDNF e... Appetite & Obesity Strong
rs1044498 ENPP1 K121Q ENPP1 K121Q variant that increases ENPP1 binding affinity to the insulin rece... Blood Sugar & Diabetes Strong
rs10830963 MTNR1B Intron C>G Melatonin receptor variant that extends nighttime melatonin signaling in panc... Hormones & Sleep Established
rs104894005 GCK Glu279Ter (MODY2) Pathogenic glucokinase nonsense variant introducing a premature stop codon th... Blood Sugar & Diabetes Established
rs10865710 PPARG PPARG C-681G PPARG promoter-region enhancer variant that reduces PPARgamma expression, inc... Fat Storage & Energy Moderate
rs10938397 GNPDA2 GIANT consortium GWAS obesity locus near GNPDA2 — affects hexosamine-pathway-... Appetite & Obesity Strong
rs11212617 ATM Intronic variant near the ATM gene affecting metformin's activation of AMPK; ... Longevity & Aging Moderate
rs104894007 GCK Thr228Met (MODY2) Pathogenic glucokinase missense variant that nearly abolishes enzyme activity... Blood Sugar & Diabetes Established
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
rs104894008 GCK Gly261Arg (MODY2) Pathogenic glucokinase missense variant that nearly abolishes enzyme activity... Blood Sugar & Diabetes Established
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
rs104894009 GCK Arg191Trp (MODY2) Pathogenic glucokinase missense variant that raises the beta-cell glucose sen... Blood Sugar & Diabetes Established
rs11061946 ADIPOR2 Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed ... Fat Storage & Energy Emerging
rs104894011 GCK Glu265Lys (MODY2) Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ... Blood Sugar & Diabetes Established
rs12640088 PPARGC1A Intronic variant in PPARGC1A that may modulate PGC-1alpha expression and mito... Fitness & Body Emerging
rs10811661 CDKN2B Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al... Blood Sugar & Diabetes Strong
rs1205 CRP +1846C>T 3' UTR variant that modulates baseline C-reactive protein levels and inflamma... Vascular Inflammation & Remodeling Strong
rs10885122 ADRA2A ADRA2A Beta-Cell cAMP Variant Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor ex... Blood Sugar & Diabetes Moderate
rs1152003 PPARG PPARG 3'-flanking region variant — the G allele independently tags a PPARG re... Fat Storage & Energy Emerging
rs11605924 CRY2 Intron Variant Circadian clock gene variant affecting fasting glucose, hepatic lipid metabol... Hormones & Sleep Strong
rs13407913 ADCY3 Intronic variant in the adenylyl cyclase 3 gene, which encodes a cAMP-produci... Fitness & Body Emerging
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
rs1501299 ADIPOQ +276G>T Intronic variant in the adiponectin gene that influences circulating adiponec... Coronary Artery Disease & Atherosclerosis Moderate
rs17166496 FSTL4 FSTL4 rs17166496 Intronic variant in FSTL4 (Follistatin-Like 4) on chromosome 5q31; heterozygo... Appetite & Obesity Emerging
rs10954640 ENPP1 ENPP1 3'UTR Variant Intergenic variant near ENPP1-associated regulatory loci; T allele is associa... Blood Sugar & Diabetes Emerging
rs1175540 PPARG PPARG rs1175540 Intronic PPARG variant associated with differential weight loss response to c... Fat Storage & Energy Moderate
rs17782313 MC4R Near-gene C>T Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me... Appetite & Obesity Strong
rs1111875 HHEX HHEX/IDE locus T2D risk variant Primary tag SNP at the HHEX/IDE locus on chromosome 10q23, one of the earlies... Blood Sugar & Diabetes Established
rs1175543 PPARG PPARG rs1175543 Intronic PPARG variant in strong linkage disequilibrium with rs709158; the G ... Fat Storage & Energy Emerging
rs1143699 PTPRS PTPRS C/T (rs1143699) Synonymous PTPRS variant associated with increased type 2 diabetes risk in me... Blood Sugar & Diabetes Moderate
rs1175544 PPARG PPARG rs1175544 Intronic PPARG variant that accounts for ~7% of individual variation in body ... Fat Storage & Energy Emerging
rs1841499 NEGR1 Hypothalamic appetite regulator variant linking obesity susceptibility to mig... Appetite & Obesity Moderate
rs563694 ABCB11 G6PC2/ABCB11 fasting glucose locus Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula... Liver Fat Strong
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
rs16847897 TERC Regulatory variant at the TERC locus associated with shorter telomeres and ac... Longevity & Aging Strong
rs184660829 DENND2C Rare intronic variant near a DENND2C splice site associated with an 8-fold in... Appetite & Obesity Moderate
rs1169288 HNF1A HNF1A Ile27Leu Common coding variant in the HNF1A transcription factor dimerization domain t... Blood Sugar & Diabetes Strong
rs17697419 VEGFC Intronic variant in the primary lymphangiogenesis growth factor gene; the min... Vascular Inflammation & Remodeling Moderate
rs11705701 IGF2BP2 IGF2BP2 Insulin Signaling Variant Upstream regulatory variant in IGF2BP2 that shifts mRNA isoform balance in ad... Blood Sugar & Diabetes Moderate
rs12304921 SLC11A2 Intronic variant in SLC11A2 (DMT1), the primary intestinal iron transporter, ... Fat Storage & Energy Emerging
rs17697515 VEGFC Intronic VEGFC variant independently associated with reduced diabetic retinop... Vascular Inflammation & Remodeling Moderate
rs28647808 ADAMTS13 Pro618Ala Missense variant in the spacer domain of ADAMTS13 that reduces VWF-cleaving p... Von Willebrand & Anticoagulant Proteins Moderate
rs11708067 ADCY5 ADCY5 Glucose Signaling Variant Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet... Blood Sugar & Diabetes Strong
rs12490265 PPARG PPARG Intronic Haplotype Variant Intronic PPARG variant in a metabolic syndrome–associated haplotype block; th... Fat Storage & Energy Emerging
rs1805097 IRS2 Gly1057Asp Missense IRS2 variant where Asp/Asp homozygotes are twice as likely to reach ... Longevity & Aging Moderate
rs193922339 GCK Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss... Metabolic Enzymes & Rare Disorders Strong
rs231806 CTLA4 Upstream regulatory variant in the CTLA4 MH30 region associated with latent a... Autoimmune Tolerance & T-Cell Regulation 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
rs12255372 TCF7L2 Second TCF7L2 diabetes variant - compounds risk with rs7903146 Blood Sugar & Diabetes Strong
rs1800872 IL10 -592 C>A Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin... Vascular Inflammation & Remodeling Strong
rs2867125 TMEM18 TMEM18 regulatory variant (2p25.3) Regulatory variant at the TMEM18 locus on chromosome 2p25.3 — one of the most... Appetite & Obesity Strong
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
rs1799941 SHBG Promoter region variant affecting sex hormone-binding globulin levels, with t... Hormones & Sleep Strong
rs738409 PNPLA3 I148M Strongest genetic risk factor for non-alcoholic fatty liver disease, progress... Liver Fat Established
rs13266634 SLC30A8 Arg325Trp (C>T) Zinc transporter 8 variant affecting zinc loading into insulin granules, infl... Blood Sugar & Diabetes Established
rs1800624 AGER -374T/A Promoter variant in the AGER gene that increases RAGE transcription approxima... Hormones & Sleep Moderate
rs1800795 IL6 -174G/C Promoter variant controlling interleukin-6 expression — affects inflammation,... Fitness & Body Strong
rs3087243 CTLA4 CT60 Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation... Autoimmune Tolerance & T-Cell Regulation Strong
rs780094 GCKR Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260... Liver Fat Strong
rs13429458 THADA THADA PCOS/T2D Variant Intronic variant in THADA, a gene encoding a calcium channel-regulating prote... Blood Sugar & Diabetes Moderate
rs1800625 AGER AGER -429T>C Promoter variant at position -429 in the AGER gene that increases RAGE transc... Hormones & Sleep Moderate
rs137853334 HNF4A HNF4A MODY1 Variant Pathogenic nonsense variant in HNF4A causing MODY1 — a progressive, autosomal... Blood Sugar & Diabetes Established
rs17036314 PPARG Intronic PPARG variant — carriers of the C allele have elevated fasting gluco... Fat Storage & Energy Moderate
rs1402837 G6PC2 G6PC2 Fasting Glucose Variant Upstream regulatory variant in G6PC2 that modulates pancreatic beta-cell gluc... Blood Sugar & Diabetes Strong
rs17300539 ADIPOQ -11391G>A Promoter variant affecting adiponectin secretion and metabolic syndrome risk Fat Storage & Energy Strong
rs1495377 TSPAN8 Intronic variant in TSPAN8 (Tetraspanin 8) associated with reduced insulin se... Blood Sugar & Diabetes Strong
rs1884614 HNF4A HNF4A P2 Promoter rs1884614 Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i... Hormones & Sleep Moderate
rs1537373 CDKN2B-AS1 ANRIL T2D/Cardiovascular Variant Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; th... Blood Sugar & Diabetes Strong
rs1562444 MTNR1B MTNR1B 3'UTR Melatonin Signaling Variant Regulatory 3'UTR variant in the melatonin receptor 1B gene that affects MTNR1... Blood Sugar & Diabetes Moderate
rs1800849 UCP3 -55C>T Promoter variant in skeletal muscle uncoupling protein 3 that increases UCP3 ... Fat Storage & Energy Moderate
rs1571583 GLIS3 GLIS3 Beta Cell Development Variant Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, refl... Blood Sugar & Diabetes Strong
rs1801282 PPARG Pro12Ala Insulin sensitivity - affects how well your cells respond to insulin Fat Storage & Energy Established
rs1934963 CYP2C9 Deep intronic CYP2C9 variant associated with altered drug response to sulfony... Pharmacogenomics Emerging
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
rs2144908 HNF4A HNF4A P2 Block rs2144908 Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa... Hormones & Sleep Moderate
rs2241767 ADIPOQ +349A>G Intronic variant in the adiponectin gene associated with lower circulating ad... Fat Storage & Energy 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
rs2764264 FOXO3 Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit... Longevity & Aging Strong
rs62408925 NCK1 Intergenic regulatory variant near NCK1 at 3q22.3; in strong linkage disequil... Appetite & Obesity Moderate
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
rs2802292 FOXO3 Longevity-associated intronic enhancer variant with 1.9-fold increased probab... Longevity & Aging Established
rs6947337 INHBA Activin A signaling variant near INHBA linking adipocyte dysfunction to share... Appetite & Obesity Moderate
rs1884613 HNF4A HNF4A P2 Promoter T2D Variant Intronic variant tagging the HNF4A P2 promoter risk haplotype; the G allele s... Blood Sugar & Diabetes Moderate
rs696217 GHRL Leu72Met Missense variant in the ghrelin prepropeptide that impairs postprandial ghrel... Appetite & Obesity Moderate
rs193922485 HNF1B Rare HNF1B splice-region intronic variant of uncertain significance, found ne... Blood Sugar & Diabetes Emerging
rs193929374 GCK GCK Ala378Val (MODY2) Pathogenic missense variant in glucokinase that raises the glucose set-point ... Blood Sugar & Diabetes Established
rs266729 ADIPOQ -11391G>C Promoter variant reducing adiponectin transcription, increasing T2D, NAFLD, a... Fat Storage & Energy Strong
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
rs4235308 PPARGC1A Intronic variant in the PGC-1alpha gene linked to population-specific type 2 ... Fitness & Body Emerging
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
rs2289669 SLC47A1 MATE1 G-1853A Intronic variant in MATE1, the renal and hepatic metformin efflux transporter... Pharmacogenomics 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
rs358806 WNT5A Regulatory variant near WNT5A linked to type 2 diabetes risk via impaired Wnt... Fat Storage & Energy Moderate
rs2268574 GCK c.679+38T>G Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen... Blood Sugar & Diabetes Emerging
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
rs9939609 FTO Intron 1 T>A The most strongly replicated obesity-associated variant, affecting body weigh... Appetite & Obesity Established
rs2758151 SGK1 Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — ... Blood Sugar & Diabetes Moderate
rs290475 TCF7L2 TCF7L2 Beta Cell Function Depth Variant Intronic TCF7L2 variant tagging a distinct haplotype with emerging evidence f... Blood Sugar & Diabetes Emerging
rs3856806 PPARG His477His (C1431T) Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and ... Fat Storage & Energy Strong
rs2943641 IRS1 Near-gene C>T Regulates insulin signaling efficiency and cellular glucose uptake Blood Sugar & Diabetes Strong
rs8192678 PPARGC1A Gly482Ser Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha... Fitness & Body Strong
rs3487348 PTPN1 PTPN1 LD Block Co-Variant Intronic PTPN1 variant in the 100-kb haplotype block; T allele associated wit... Blood Sugar & Diabetes Moderate
rs367643250 DYRK1B R102C Rare gain-of-function variant causing autosomal dominant metabolic syndrome (... Blood Sugar & Diabetes Strong
rs4810424 R3HDML R3HDML rs4810424 Intronic variant tagging the HNF4A P2 promoter risk haplotype; C allele carri... Fat Storage & Energy 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
rs4994 ADRB3 Trp64Arg Beta-3 adrenergic receptor variant that impairs catecholamine-stimulated lipo... Fat Storage & Energy Moderate
rs316019 SLC22A2 Ala270Ser Reduces OCT2 organic cation transporter function in the kidney, lowering metf... Pharmacogenomics Moderate
rs3787348 PTPN1 PTPN1 intronic variant Intronic PTPN1 tag SNP within the 100-kb insulin-resistance haplotype block; ... Blood Sugar & Diabetes Moderate
rs391300 SRR SRR rs391300 Intronic variant in serine racemase that alters D-serine production in pancre... Blood Sugar & Diabetes Moderate
rs660339 UCP2 Ala55Val Missense variant reducing mitochondrial uncoupling efficiency in white adipos... Fat Storage & Energy Moderate
rs397514580 GCK GCK MODY2 E339K Pathogenic glucokinase missense variant causing maturity-onset diabetes of th... Blood Sugar & Diabetes Strong
rs6809631 PPARG Intronic PPARG promoter tagSNP associated with modest reduction in type 2 dia... Fat Storage & Energy Emerging
rs4607517 GCK GCK fasting glucose GWAS variant Common intronic variant near glucokinase that raises fasting glucose by impai... Blood Sugar & Diabetes Strong
rs4753426 MTNR1B Promoter variant in the melatonin receptor 1B gene that alters MTNR1B express... Hormones & Sleep Moderate
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
rs4812829 HNF4A HNF4A Intronic T2D Risk Variant Common intronic variant in HNF4A associated with modestly elevated type 2 dia... Blood Sugar & Diabetes Strong
rs3765467 GLP1R Arg131Gln Missense variant in the GLP-1 receptor that alters drug response to GLP-1 ago... Pharmacogenomics Moderate
rs492594 G6PC2 Val219Leu Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting... Blood Sugar & Diabetes Moderate
rs5015480 HHEX HHEX/IDE locus variant Regulatory variant near HHEX and IDE linked to impaired beta-cell development... Blood Sugar & Diabetes Established
rs767870 ADIPOR2 ADIPOR2 intron 6 variant Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced ... Fat Storage & Energy Moderate
rs5030868 G6PD G6PD Mediterranean Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less ... Blood Sugar & Diabetes Established
rs5210 KCNJ11 KCNJ11 Kir6.2 Co-Variant A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression ... Blood Sugar & Diabetes Moderate
rs5219 KCNJ11 E23K Controls the pancreatic beta-cell potassium channel that regulates insulin se... Blood Sugar & Diabetes Strong
rs9817428 PPARG PPARG promoter tagSNP Intronic PPARG tagSNP with cross-ethnic replication for type 2 diabetes risk ... Fat Storage & Energy Emerging
rs564398 CDKN2B-AS1 Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS... Blood Sugar & Diabetes Moderate
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
rs6031552 HNF4A HNF4A Regulatory Variant Intronic variant tagging the HNF4A P2 promoter haplotype; carriers have modes... Blood Sugar & Diabetes Moderate
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
rs689 INS INS VNTR (Type 1 Diabetes Susceptibility) Tag SNP for the insulin gene VNTR promoter — shorter Class I repeats raise T1... Blood Sugar & Diabetes Strong
rs7202877 CTRB1 Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio... Blood Sugar & Diabetes Strong
rs76723693 G6PD G6PD Nefza (c.968T>C) Missense variant in glucose-6-phosphate dehydrogenase causing Class III G6PD ... 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
rs780096 GCKR GCKR Metabolic Balance Variant Intronic GCKR enhancer variant that modulates FOXA2-driven GCKR expression in... Blood Sugar & Diabetes Moderate
rs7903146 TCF7L2 Main type 2 diabetes risk variant - strongly modulated by dietary fat Blood Sugar & Diabetes Established
rs622342 SLC22A1 A>C Intronic variant in the OCT1 organic cation transporter reducing hepatic metf... Pharmacogenomics 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
rs6923761 GLP1R Gly168Ser GLP-1 receptor variant that alters response to GLP-1 agonist medications used... Pharmacogenomics Moderate