Research
Tag

Insulin

134 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
rs11072566 NRG4 NRG4 Variant Common intronic variant at the NRG4 locus; NRG4 is a brown adipose tissue-enr... Liver Fat Emerging
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
rs1042571 POMC 3'UTR variant in the appetite-suppression gene POMC that disrupts miRNA bindi... Appetite & Obesity 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
rs10515237 PCSK1 PCSK1 A/G (rs10515237) Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, red... Appetite & Obesity Moderate
rs10423928 GIPR Intronic GIPR variant that reduces functional GIP receptor expression via alt... Blood Sugar & Diabetes Strong
rs1053049 PPARD 3'UTR variant 3'UTR variant in PPARD that acts as the third tag in the elite athlete haplot... Fitness & Body Moderate
rs10830963 MTNR1B Intron C>G Melatonin receptor variant that extends nighttime melatonin signaling in panc... Hormones & Sleep Established
rs1260326 GCKR P446L Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fr... Liver Fat Strong
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
rs11212617 ATM Intronic variant near the ATM gene affecting metformin's activation of AMPK; ... Longevity & Aging Moderate
rs1776897 HMGA1 Chromatin remodeling variant near HMGA1 associated with waist-to-hip ratio an... Liver Fat Moderate
rs104894008 GCK Gly261Arg (MODY2) Pathogenic glucokinase missense variant that nearly abolishes enzyme activity... Blood Sugar & Diabetes Established
rs104894009 GCK Arg191Trp (MODY2) Pathogenic glucokinase missense variant that raises the beta-cell glucose sen... Blood Sugar & Diabetes Established
rs104894011 GCK Glu265Lys (MODY2) Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ... Blood Sugar & Diabetes Established
rs12206094 FOXO3 Functional FOXO3 intronic variant with allele-specific CTCF binding and IGF-1... Longevity & Aging Strong
rs10811661 CDKN2B Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al... Blood Sugar & Diabetes Strong
rs10885122 ADRA2A ADRA2A Beta-Cell cAMP Variant Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor ex... Blood Sugar & Diabetes Moderate
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
rs1501299 ADIPOQ +276G>T Intronic variant in the adiponectin gene that influences circulating adiponec... Coronary Artery Disease & Atherosclerosis Moderate
rs4240624 PPP1R3B Near-gene variant Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevat... Liver Fat Strong
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
rs13217795 FOXO3 Original 2008 Willcox longevity discovery variant; C allele tags the protecti... Longevity & Aging Strong
rs17782313 MC4R Near-gene C>T Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me... Appetite & Obesity Strong
rs4841132 PPP1R3B Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 stu... Liver Fat 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
rs1800544 ADRA2A ADRA2A Promoter -1291C>G Promoter variant that alters alpha-2A adrenergic receptor expression, affecti... Appetite & Obesity Moderate
rs1143699 PTPRS PTPRS C/T (rs1143699) Synonymous PTPRS variant associated with increased type 2 diabetes risk in me... Blood Sugar & Diabetes 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
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
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
rs11708067 ADCY5 ADCY5 Glucose Signaling Variant Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet... Blood Sugar & Diabetes Strong
rs1805097 IRS2 Gly1057Asp Missense IRS2 variant where Asp/Asp homozygotes are twice as likely to reach ... Longevity & Aging Moderate
rs2479106 DENND1A Intronic variant in the androgen-regulating DENND1A gene associated with poly... Fertility & Ovarian Function Strong
rs12243326 TCF7L2 TCF7L2 Incretin Response Depth Variant Intronic TCF7L2 depth variant replicated across multiple populations as a sec... Blood Sugar & Diabetes Moderate
rs12255372 TCF7L2 Second TCF7L2 diabetes variant - compounds risk with rs7903146 Blood Sugar & Diabetes Strong
rs2241766 ADIPOQ T45G Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability... Coronary Artery Disease & Atherosclerosis Moderate
rs12610022 INSR Intronic INSR variant that may alter insulin receptor expression or isoform b... Blood Sugar & Diabetes Emerging
rs13266634 SLC30A8 Arg325Trp (C>T) Zinc transporter 8 variant affecting zinc loading into insulin granules, infl... Blood Sugar & Diabetes Established
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
rs2153960 FOXO3 Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-... Longevity & Aging Moderate
rs3827103 MC3R Common MC3R missense variant that reduces receptor expression and shifts nutr... Appetite & Obesity Moderate
rs5068 NPPA 3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic pe... Blood Pressure & Hypertension Strong
rs137853334 HNF4A HNF4A MODY1 Variant Pathogenic nonsense variant in HNF4A causing MODY1 — a progressive, autosomal... Blood Sugar & Diabetes Established
rs2229765 IGF1R c.3179G>A (E1013E) Synonymous IGF1R variant associated with lower circulating IGF-1 levels and e... Longevity & Aging 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
rs1799883 FABP2 Ala54Thr Intestinal fat absorption - affects how efficiently you absorb dietary fat Triglycerides & Fatty Acids Moderate
rs4788102 SH2B1 SH2B1/APOBR locus variant Intronic variant at the SH2B1 locus on chromosome 16p11.2 — a key adaptor pro... Appetite & Obesity 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
rs1991517 TSHR Asp727Glu Affects TSH receptor sensitivity and thyroid hormone regulation; influences T... Hormones & Sleep Strong
rs2295080 MTOR Promoter variant that reduces mTOR expression; the G allele lowers mTOR trans... Longevity & Aging Moderate
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
rs2073658 USF1 USF1 FCHL Variant Intronic USF1 variant; the T allele disrupts insulin-responsive USF1 regulati... Triglycerides & Fatty Acids Strong
rs509035 GHSR GHSR Metabolic Syndrome Variant Intronic variant in the ghrelin receptor gene; the A allele is associated wit... Appetite & Obesity Strong
rs1801282 PPARG Pro12Ala Insulin sensitivity - affects how well your cells respond to insulin Fat Storage & Energy Established
rs16989673 PTPN1 1484insG A guanine duplication in the 3'-UTR of PTPN1 (PTP1B) that increases mRNA stab... Blood Sugar & Diabetes Moderate
rs2542052 APOC3 Promoter variant that reduces APOC3 expression, associated with lower triglyc... Longevity & Aging Strong
rs6232 PCSK1 PCSK1 N221D (Asn221Asp) Missense variant in PCSK1 encoding an Asn221Asp substitution near the Ca-1 ca... Appetite & Obesity Strong
rs6234 PCSK1 PCSK1 Q665E (Gln665Glu) Missense variant in PCSK1 that causes a Gln665Glu substitution in the C-termi... Appetite & Obesity Strong
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
rs6235 PCSK1 PCSK1 S690T (Ser690Thr) Missense variant encoding the Ser690Thr substitution in the C-terminal domain... Appetite & Obesity Strong
rs1800961 HNF4A Thr130Ile Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional... Blood Sugar & Diabetes Moderate
rs1801278 IRS1 Gly972Arg (G972R) Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph... Blood Sugar & Diabetes Strong
rs2304795 PLIN1 Synonymous exon 8 variant in perilipin 1 that tags a haplotype associated wit... Fat Storage & Energy Moderate
rs2727270 FADS2 Intronic regulatory variant in FADS2 that tags a 10-SNP haplotype reducing ba... Triglycerides & Fatty Acids 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
rs2605100 LYPLAL1 Intronic variant in the LYPLAL1 locus associated with waist-hip ratio and fat... Fat Storage & Energy Strong
rs696217 GHRL Leu72Met Missense variant in the ghrelin prepropeptide that impairs postprandial ghrel... Appetite & Obesity Moderate
rs2287161 CRY1 3' Downstream G>C Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep t... Hormones & Sleep Strong
rs6905288 VEGFA Adipose tissue vascularization variant near VEGFA influencing fat distributio... Vascular Inflammation & Remodeling Moderate
rs193929374 GCK GCK Ala378Val (MODY2) Pathogenic missense variant in glucokinase that raises the glucose set-point ... Blood Sugar & Diabetes Established
rs2291725 GIP Ser103Gly Missense variant in the GIP incretin hormone that changes its bioactivity and... Hormones & Sleep Moderate
rs266729 ADIPOQ -11391G>C Promoter variant reducing adiponectin transcription, increasing T2D, NAFLD, a... Fat Storage & Energy Strong
rs2059807 INSR INSR intronic variant Intronic INSR variant associated with PCOS susceptibility and metabolic syndr... Blood Sugar & Diabetes Moderate
rs2854747 IGFBP3 Intronic variant in IGFBP3 — the gene encoding the main carrier protein for I... Fat Storage & Energy Moderate
rs4235308 PPARGC1A Intronic variant in the PGC-1alpha gene linked to population-specific type 2 ... Fitness & Body Emerging
rs7566605 INSIG2 Upstream regulatory variant near INSIG2 that influences lipogenesis control a... Appetite & Obesity Moderate
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
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
rs3803304 AKT1 Intronic AKT1 variant near a conserved exon-intron boundary; the G allele is ... Longevity & Aging 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
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
rs6902123 PPARD Intronic PPARD variant that independently impairs hepatic fat mobilization du... Fitness & Body Moderate
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
rs2943641 IRS1 Near-gene C>T Regulates insulin signaling efficiency and cellular glucose uptake 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
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
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
rs4812829 HNF4A HNF4A Intronic T2D Risk Variant Common intronic variant in HNF4A associated with modestly elevated type 2 dia... Blood Sugar & Diabetes Strong
rs709158 PPARG Intronic PPARG variant in strong linkage disequilibrium with rs1175543; the G... Fat Storage & Energy Emerging
rs492594 G6PC2 Val219Leu Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting... Blood Sugar & Diabetes Moderate
rs7649970 PPARG PPARG C-689T PPARG PPARγ2 P2 promoter variant that reduces basal promoter activity, elevat... Fat Storage & Energy Moderate
rs5015480 HHEX HHEX/IDE locus variant Regulatory variant near HHEX and IDE linked to impaired beta-cell development... 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
rs564398 CDKN2B-AS1 Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS... Blood Sugar & Diabetes Moderate
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
rs56051278 GPD2 Intronic variant in GPD2 (mitochondrial glycerol-3-phosphate dehydrogenase), ... Neurology & Cognition 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
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
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