Tag
Diabetes
104 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 | |
| rs10515237 | PCSK1 PCSK1 A/G (rs10515237) | Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype | Appetite & Obesity | Moderate | |
| rs10766383 | NUCB2 | Intronic NUCB2 variant associated with type 2 diabetes risk in females and or... | Hormones & Sleep | Moderate | |
| rs10278336 | YKT6 GCK-Region Intronic Variant | Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWA... | Blood Sugar & Diabetes | Moderate | |
| rs10882283 | RBP4 RBP4 rs10882283 | 5' UTR variant in RBP4 that influences expression of retinol binding protein ... | Fat Storage & Energy | Moderate | |
| rs1042044 | GLP1R Leu260Phe | GLP-1 receptor variant in intracellular loop 2 that alters receptor surface e... | Pharmacogenomics | Moderate | |
| rs1044498 | ENPP1 K121Q | ENPP1 K121Q variant that increases ENPP1 binding affinity to the insulin rece... | Blood Sugar & Diabetes | Strong | |
| rs10938397 | GNPDA2 | GIANT consortium GWAS obesity locus near GNPDA2 | Appetite & Obesity | Strong | |
| rs11061946 | ADIPOR2 | Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed ... | Fat Storage & Energy | Emerging | |
| rs1137101 | LEPR Q223R (Gln223Arg) | Common leptin receptor variant in the leptin-binding domain affecting satiety... | Hormones & Sleep | Moderate | |
| rs1205 | CRP +1846C>T | 3' UTR variant that modulates baseline C-reactive protein levels and inflamma... | Vascular Inflammation & Remodeling | Strong | |
| rs104894008 | GCK Gly261Arg (MODY2) | Pathogenic glucokinase missense variant that nearly abolishes enzyme activity... | Blood Sugar & Diabetes | Established | |
| rs11212617 | ATM | Intronic variant near the ATM gene affecting metformin's activation of AMPK; ... | Longevity & Aging | Moderate | |
| rs116862713 | PRKAB1 | Rare AMPK beta-1 subunit variant linking central energy sensing to shared mig... | Fat Storage & Energy | Emerging | |
| rs104894011 | GCK Glu265Lys (MODY2) | Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ... | Blood Sugar & Diabetes | Established | |
| rs1175544 | PPARG PPARG rs1175544 | Intronic PPARG variant that accounts for ~7% of individual variation in body ... | Fat Storage & Energy | Emerging | |
| rs10811661 | CDKN2B | Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al... | 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 | |
| rs2972164 | PPARG | Intronic PPARG variant associated with rate of change in insulin sensitivity ... | Liver Fat | Moderate | |
| rs10885122 | ADRA2A ADRA2A Beta-Cell cAMP Variant | Intergenic variant near ADRA2A | Blood Sugar & Diabetes | Moderate | |
| rs11590235 | SKI | TGF-beta signaling regulator variant identified as the top shared locus betwe... | Cardiomyopathy & Structural Heart | Moderate | |
| rs11605924 | CRY2 Intron Variant | Circadian clock gene variant affecting fasting glucose, hepatic lipid metabol... | Hormones & Sleep | Strong | |
| rs17697419 | VEGFC | Intronic variant in the primary lymphangiogenesis growth factor gene; the min... | Vascular Inflammation & Remodeling | Moderate | |
| rs17782313 | MC4R Near-gene C>T | Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me... | Appetite & Obesity | Strong | |
| rs10885406 | TCF7L2 TCF7L2 Wnt Signaling Depth Variant | Intronic TCF7L2 variant tagging the diabetes-risk haplotype and associated wi... | Blood Sugar & Diabetes | Moderate | |
| rs16861194 | ADIPOQ -11426A>G | Upstream promoter variant that reduces ADIPOQ transcription, lowering circula... | Fat Storage & Energy | Moderate | |
| rs17697515 | VEGFC | Intronic VEGFC variant independently associated with reduced diabetic retinop... | Vascular Inflammation & Remodeling | Moderate | |
| 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 | |
| rs1501299 | ADIPOQ +276G>T | Intronic variant in the adiponectin gene that influences circulating adiponec... | Coronary Artery Disease & Atherosclerosis | 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 | |
| rs1169288 | HNF1A HNF1A Ile27Leu | Common coding variant in the HNF1A transcription factor dimerization domain t... | Blood Sugar & Diabetes | Strong | |
| rs17300539 | ADIPOQ -11391G>A | Promoter variant affecting adiponectin secretion and metabolic syndrome risk | Fat Storage & Energy | 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 | |
| rs11705701 | IGF2BP2 IGF2BP2 Insulin Signaling Variant | Upstream regulatory variant in IGF2BP2 that shifts mRNA isoform balance in ad... | Blood Sugar & Diabetes | Moderate | |
| rs1799941 | SHBG | Promoter region variant affecting sex hormone-binding globulin levels, with t... | Hormones & Sleep | Strong | |
| rs11708067 | ADCY5 ADCY5 Glucose Signaling Variant | Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet... | Blood Sugar & Diabetes | Strong | |
| rs1800625 | AGER AGER -429T>C | Promoter variant at position -429 in the AGER gene linked to diabetic complic... | Hormones & Sleep | Moderate | |
| rs182052 | ADIPOQ ADIPOQ promoter -10066A>G | Intronic/promoter-region ADIPOQ variant where the A allele reduces circulatin... | Fat Storage & Energy | Strong | |
| rs12243326 | TCF7L2 TCF7L2 Incretin Response Depth Variant | Intronic TCF7L2 depth variant replicated across multiple populations as a sec... | Blood Sugar & Diabetes | Moderate | |
| rs1805097 | IRS2 Gly1057Asp | Missense IRS2 variant where Asp/Asp homozygotes are twice as likely to reach ... | Longevity & Aging | Moderate | |
| rs12255372 | TCF7L2 | Second TCF7L2 diabetes variant - compounds risk with rs7903146 | Blood Sugar & Diabetes | Strong | |
| rs780094 | GCKR | Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260... | Liver Fat | Strong | |
| rs12610022 | INSR | Intronic INSR variant that may alter insulin receptor expression or isoform b... | Blood Sugar & Diabetes | Emerging | |
| rs1884614 | HNF4A HNF4A P2 Promoter rs1884614 | Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i... | Hormones & Sleep | Moderate | |
| rs13266634 | SLC30A8 Arg325Trp (C>T) | Zinc transporter 8 variant affecting zinc loading into insulin granules, infl... | Blood Sugar & Diabetes | Established | |
| rs3087243 | CTLA4 CT60 | Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation... | Autoimmune Tolerance & T-Cell Regulation | Strong | |
| rs1571583 | GLIS3 GLIS3 Beta Cell Development Variant | Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, refl... | Blood Sugar & Diabetes | Strong | |
| rs3734254 | PPARD T+294C | PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the... | Fat Storage & Energy | Moderate | |
| rs3745012 | LPIN2 LPIN2 3'UTR variant | 3' UTR regulatory variant in LPIN2 (lipin 2) that alters fat distribution and... | Fat Storage & Energy | Moderate | |
| rs62408925 | NCK1 | Intergenic regulatory variant near NCK1 at 3q22.3; in strong linkage disequil... | Appetite & Obesity | 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 | |
| rs6548238 | TMEM18 | Second strongest obesity GWAS locus after FTO | Appetite & Obesity | Strong | |
| rs1799999 | PPP1R3A Asp905Tyr | Missense variant in the skeletal muscle glycogen-targeting subunit of protein... | Blood Sugar & Diabetes | Moderate | |
| rs696217 | GHRL Leu72Met | Missense variant in the ghrelin prepropeptide that impairs postprandial ghrel... | Appetite & Obesity | Moderate | |
| rs1800961 | HNF4A Thr130Ile | Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional... | Blood Sugar & Diabetes | Moderate | |
| rs3856806 | PPARG His477His (C1431T) | Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and ... | Fat Storage & Energy | Strong | |
| rs7498665 | SH2B1 Thr484Ala | Obesity GWAS missense variant in SH2B1 that impairs leptin signaling and incr... | Appetite & Obesity | Strong | |
| rs1801278 | IRS1 Gly972Arg (G972R) | Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph... | Blood Sugar & Diabetes | Strong | |
| rs1934963 | CYP2C9 | Deep intronic CYP2C9 variant associated with altered drug response | Pharmacogenomics | Emerging | |
| rs767870 | ADIPOR2 ADIPOR2 intron 6 variant | Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced ... | Fat Storage & Energy | Moderate | |
| 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 | |
| rs2233580 | PAX4 Arg192His | Missense variant that impairs PAX4's ability to repress insulin and glucagon ... | Blood Sugar & Diabetes | Strong | |
| rs2268574 | GCK c.679+38T>G | Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen... | Blood Sugar & Diabetes | Emerging | |
| rs2764264 | FOXO3 | Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit... | Longevity & Aging | Strong | |
| rs2295490 | TRIB3 Q84R | TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing ... | Blood Sugar & Diabetes | Strong | |
| 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 | |
| rs2802292 | FOXO3 | Longevity-associated intronic enhancer variant | Longevity & Aging | Established | |
| rs2758151 | SGK1 | Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — ... | Blood Sugar & Diabetes | Moderate | |
| rs8192678 | PPARGC1A Gly482Ser | Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha... | Fitness & Body | Strong | |
| rs2943641 | IRS1 Near-gene C>T | Regulates insulin signaling efficiency and cellular glucose uptake | Blood Sugar & Diabetes | Strong | |
| rs2289669 | SLC47A1 MATE1 G-1853A | Intronic variant in MATE1, the renal and hepatic metformin efflux transporter... | Pharmacogenomics | Moderate | |
| rs367643250 | DYRK1B R102C | Rare gain-of-function variant causing autosomal dominant metabolic syndrome (... | Blood Sugar & Diabetes | Strong | |
| rs4753426 | MTNR1B | Promoter variant in the melatonin receptor 1B gene that alters MTNR1B express... | Hormones & Sleep | 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 | |
| rs391300 | SRR SRR rs391300 | Intronic variant in serine racemase that alters D-serine production in pancre... | Blood Sugar & Diabetes | Moderate | |
| rs397514580 | GCK GCK MODY2 E339K | Pathogenic glucokinase missense variant causing maturity-onset diabetes of th... | Blood Sugar & Diabetes | Strong | |
| rs4607517 | GCK GCK fasting glucose GWAS variant | Common variant near glucokinase that raises fasting glucose by impairing the ... | Blood Sugar & Diabetes | Strong | |
| rs316019 | SLC22A2 Ala270Ser | Reduces OCT2 organic cation transporter function in the kidney, lowering metf... | Pharmacogenomics | Moderate | |
| rs4807015 | PTPRS PTPRS T2D risk variant | Intronic PTPRS variant that tags elevated type 2 diabetes risk in both sexes ... | Blood Sugar & Diabetes | Moderate | |
| rs4812829 | HNF4A HNF4A Intronic T2D Risk Variant | Common intronic variant in HNF4A associated with modestly elevated type 2 dia... | Blood Sugar & Diabetes | Strong | |
| 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 | |
| rs564398 | CDKN2B-AS1 | Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS... | Blood Sugar & Diabetes | Moderate | |
| rs3765467 | GLP1R Arg131Gln | Missense variant in the GLP-1 receptor that alters drug response to GLP-1 ago... | Pharmacogenomics | 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 | |
| rs6067484 | PTPN1 PTPN1 rs6067484 | Intronic PTPN1 tag SNP raising LDL cholesterol risk in lean individuals | 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 | |
| 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 | |
| rs7903146 | TCF7L2 | Main type 2 diabetes risk variant - strongly modulated by dietary fat | Blood Sugar & Diabetes | Established | |
| 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 | |
| rs622342 | SLC22A1 A>C | Intronic variant in the OCT1 organic cation transporter reducing hepatic metf... | Pharmacogenomics | Moderate | |
| rs6923761 | GLP1R Gly168Ser | GLP-1 receptor variant that alters response to GLP-1 agonist medications used... | Pharmacogenomics | Moderate |