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	Insulin	Strong
rs11072566	NRG4 NRG4 Variant	Common intronic variant at the NRG4 locus; NRG4 is a brown adipose tissue-enr...	Liver Fat	Insulin	Emerging
rs10195252	GRB14/COBLL1	Intergenic variant between GRB14 and COBLL1 that acts as an eQTL for GRB14 in...	Blood Sugar & Diabetes	Insulin	Strong
rs10305492	GLP1R A316T	Rare protective missense variant in the GLP-1 receptor associated with lower ...	Pharmacogenomics	Insulin	Strong
rs1042571	POMC	3'UTR variant in the appetite-suppression gene POMC that disrupts miRNA bindi...	Appetite & Obesity	Insulin	Moderate
rs10278336	YKT6 GCK-Region Intronic Variant	Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWA...	Blood Sugar & Diabetes	Insulin	Moderate
rs10515237	PCSK1 PCSK1 A/G (rs10515237)	Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, red...	Appetite & Obesity	Insulin	Moderate
rs10423928	GIPR	Intronic GIPR variant that reduces functional GIP receptor expression via alt...	Blood Sugar & Diabetes	Insulin	Strong
rs1053049	PPARD 3'UTR variant	3'UTR variant in PPARD that acts as the third tag in the elite athlete haplot...	Fitness & Body	Insulin	Moderate
rs10830963	MTNR1B Intron C>G	Melatonin receptor variant that extends nighttime melatonin signaling in panc...	Hormones & Sleep	Insulin	Established
rs1260326	GCKR P446L	Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fr...	Liver Fat	Insulin	Strong
rs104894005	GCK Glu279Ter (MODY2)	Pathogenic glucokinase nonsense variant introducing a premature stop codon th...	Blood Sugar & Diabetes	Insulin	Established
rs10865710	PPARG PPARG C-681G	PPARG promoter-region enhancer variant that reduces PPARgamma expression, inc...	Fat Storage & Energy	Insulin	Moderate
rs11212617	ATM	Intronic variant near the ATM gene affecting metformin's activation of AMPK; ...	Longevity & Aging	Insulin	Moderate
rs1776897	HMGA1	Chromatin remodeling variant near HMGA1 associated with waist-to-hip ratio an...	Liver Fat	Insulin	Moderate
rs104894008	GCK Gly261Arg (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Insulin	Established
rs104894009	GCK Arg191Trp (MODY2)	Pathogenic glucokinase missense variant that raises the beta-cell glucose sen...	Blood Sugar & Diabetes	Insulin	Established
rs104894011	GCK Glu265Lys (MODY2)	Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ...	Blood Sugar & Diabetes	Insulin	Established
rs12206094	FOXO3	Functional FOXO3 intronic variant with allele-specific CTCF binding and IGF-1...	Longevity & Aging	Insulin	Strong
rs10811661	CDKN2B	Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al...	Blood Sugar & Diabetes	Insulin	Strong
rs10885122	ADRA2A ADRA2A Beta-Cell cAMP Variant	Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor ex...	Blood Sugar & Diabetes	Insulin	Moderate
rs11605924	CRY2 Intron Variant	Circadian clock gene variant affecting fasting glucose, hepatic lipid metabol...	Hormones & Sleep	Insulin	Strong
rs13407913	ADCY3	Intronic variant in the adenylyl cyclase 3 gene, which encodes a cAMP-produci...	Fitness & Body	Insulin	Emerging
rs2972164	PPARG	Intronic PPARG variant associated with rate of change in insulin sensitivity ...	Liver Fat	Insulin	Moderate
rs10885406	TCF7L2 TCF7L2 Wnt Signaling Depth Variant	Intronic TCF7L2 variant tagging the diabetes-risk haplotype and associated wi...	Blood Sugar & Diabetes	Insulin	Moderate
rs1501299	ADIPOQ +276G>T	Intronic variant in the adiponectin gene that influences circulating adiponec...	Coronary Artery Disease & Atherosclerosis	Insulin	Moderate
rs4240624	PPP1R3B Near-gene variant	Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevat...	Liver Fat	Insulin	Strong
rs10954640	ENPP1 ENPP1 3'UTR Variant	Intergenic variant near ENPP1-associated regulatory loci; T allele is associa...	Blood Sugar & Diabetes	Insulin	Emerging
rs1175540	PPARG PPARG rs1175540	Intronic PPARG variant associated with differential weight loss response to c...	Fat Storage & Energy	Insulin	Moderate
rs13217795	FOXO3	Original 2008 Willcox longevity discovery variant; C allele tags the protecti...	Longevity & Aging	Insulin	Strong
rs17782313	MC4R Near-gene C>T	Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me...	Appetite & Obesity	Insulin	Strong
rs4841132	PPP1R3B	Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 stu...	Liver Fat	Insulin	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	Insulin	Established
rs1175543	PPARG PPARG rs1175543	Intronic PPARG variant in strong linkage disequilibrium with rs709158; the G ...	Fat Storage & Energy	Insulin	Emerging
rs1800544	ADRA2A ADRA2A Promoter -1291C>G	Promoter variant that alters alpha-2A adrenergic receptor expression, affecti...	Appetite & Obesity	Insulin	Moderate
rs1143699	PTPRS PTPRS C/T (rs1143699)	Synonymous PTPRS variant associated with increased type 2 diabetes risk in me...	Blood Sugar & Diabetes	Insulin	Moderate
rs563694	ABCB11 G6PC2/ABCB11 fasting glucose locus	Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula...	Liver Fat	Insulin	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	Insulin	Strong
rs184660829	DENND2C	Rare intronic variant near a DENND2C splice site associated with an 8-fold in...	Appetite & Obesity	Insulin	Moderate
rs1169288	HNF1A HNF1A Ile27Leu	Common coding variant in the HNF1A transcription factor dimerization domain t...	Blood Sugar & Diabetes	Insulin	Strong
rs11705701	IGF2BP2 IGF2BP2 Insulin Signaling Variant	Upstream regulatory variant in IGF2BP2 that shifts mRNA isoform balance in ad...	Blood Sugar & Diabetes	Insulin	Moderate
rs12304921	SLC11A2	Intronic variant in SLC11A2 (DMT1), the primary intestinal iron transporter, ...	Fat Storage & Energy	Insulin	Emerging
rs11708067	ADCY5 ADCY5 Glucose Signaling Variant	Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet...	Blood Sugar & Diabetes	Insulin	Strong
rs2479106	DENND1A	Intronic variant in the androgen-regulating DENND1A gene associated with poly...	Fertility & Ovarian Function	Insulin	Strong
rs12243326	TCF7L2 TCF7L2 Incretin Response Depth Variant	Intronic TCF7L2 depth variant replicated across multiple populations as a sec...	Blood Sugar & Diabetes	Insulin	Moderate
rs1805097	IRS2 Gly1057Asp	Missense IRS2 variant where Asp/Asp homozygotes are twice as likely to reach ...	Longevity & Aging	Insulin	Moderate
rs12255372	TCF7L2	Second TCF7L2 diabetes variant - compounds risk with rs7903146	Blood Sugar & Diabetes	Insulin	Strong
rs2241766	ADIPOQ T45G	Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability...	Coronary Artery Disease & Atherosclerosis	Insulin	Moderate
rs12610022	INSR	Intronic INSR variant that may alter insulin receptor expression or isoform b...	Blood Sugar & Diabetes	Insulin	Emerging
rs13266634	SLC30A8 Arg325Trp (C>T)	Zinc transporter 8 variant affecting zinc loading into insulin granules, infl...	Blood Sugar & Diabetes	Insulin	Established
rs780094	GCKR	Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260...	Liver Fat	Insulin	Strong
rs13429458	THADA THADA PCOS/T2D Variant	Intronic variant in THADA, a gene encoding a calcium channel-regulating prote...	Blood Sugar & Diabetes	Insulin	Moderate
rs3827103	MC3R	Common MC3R missense variant that reduces receptor expression and shifts nutr...	Appetite & Obesity	Insulin	Moderate
rs5068	NPPA	3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic pe...	Blood Pressure & Hypertension	Insulin	Strong
rs137853334	HNF4A HNF4A MODY1 Variant	Pathogenic nonsense variant in HNF4A causing MODY1 — a progressive, autosomal...	Blood Sugar & Diabetes	Insulin	Established
rs2153960	FOXO3	Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-...	Longevity & Aging	Insulin	Moderate
rs1402837	G6PC2 G6PC2 Fasting Glucose Variant	Upstream regulatory variant in G6PC2 that modulates pancreatic beta-cell gluc...	Blood Sugar & Diabetes	Insulin	Strong
rs17300539	ADIPOQ -11391G>A	Promoter variant affecting adiponectin secretion and metabolic syndrome risk	Fat Storage & Energy	Insulin	Strong
rs1799883	FABP2 Ala54Thr	Intestinal fat absorption - affects how efficiently you absorb dietary fat	Triglycerides & Fatty Acids	Insulin	Moderate
rs2229765	IGF1R c.3179G>A (E1013E)	Synonymous IGF1R variant associated with lower circulating IGF-1 levels and e...	Longevity & Aging	Insulin	Moderate
rs4788102	SH2B1 SH2B1/APOBR locus variant	Intronic variant at the SH2B1 locus on chromosome 16p11.2 — a key adaptor pro...	Appetite & Obesity	Insulin	Strong
rs1495377	TSPAN8	Intronic variant in TSPAN8 (Tetraspanin 8) associated with reduced insulin se...	Blood Sugar & Diabetes	Insulin	Strong
rs1884614	HNF4A HNF4A P2 Promoter rs1884614	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i...	Hormones & Sleep	Insulin	Moderate
rs1537373	CDKN2B-AS1 ANRIL T2D/Cardiovascular Variant	Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; th...	Blood Sugar & Diabetes	Insulin	Strong
rs1991517	TSHR Asp727Glu	Affects TSH receptor sensitivity and thyroid hormone regulation; influences T...	Hormones & Sleep	Insulin	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	Insulin	Moderate
rs1800849	UCP3 -55C>T	Promoter variant in skeletal muscle uncoupling protein 3 that increases UCP3 ...	Fat Storage & Energy	Insulin	Moderate
rs2073658	USF1 USF1 FCHL Variant	Intronic USF1 variant; the T allele disrupts insulin-responsive USF1 regulati...	Triglycerides & Fatty Acids	Insulin	Strong
rs2295080	MTOR	Promoter variant that reduces mTOR expression; the G allele lowers mTOR trans...	Longevity & Aging	Insulin	Moderate
rs509035	GHSR GHSR Metabolic Syndrome Variant	Intronic variant in the ghrelin receptor gene; the A allele is associated wit...	Appetite & Obesity	Insulin	Strong
rs1801282	PPARG Pro12Ala	Insulin sensitivity - affects how well your cells respond to insulin	Fat Storage & Energy	Insulin	Established
rs16989673	PTPN1 1484insG	A guanine duplication in the 3'-UTR of PTPN1 (PTP1B) that increases mRNA stab...	Blood Sugar & Diabetes	Insulin	Moderate
rs6232	PCSK1 PCSK1 N221D (Asn221Asp)	Missense variant in PCSK1 encoding an Asn221Asp substitution near the Ca-1 ca...	Appetite & Obesity	Insulin	Strong
rs2542052	APOC3	Promoter variant that reduces APOC3 expression, associated with lower triglyc...	Longevity & Aging	Insulin	Strong
rs6234	PCSK1 PCSK1 Q665E (Gln665Glu)	Missense variant in PCSK1 that causes a Gln665Glu substitution in the C-termi...	Appetite & Obesity	Insulin	Strong
rs1799817	INSR His1085His	Synonymous variant in the tyrosine kinase domain of the insulin receptor; the...	Blood Sugar & Diabetes	Insulin	Moderate
rs2144908	HNF4A HNF4A P2 Block rs2144908	Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa...	Hormones & Sleep	Insulin	Moderate
rs6235	PCSK1 PCSK1 S690T (Ser690Thr)	Missense variant encoding the Ser690Thr substitution in the C-terminal domain...	Appetite & Obesity	Insulin	Strong
rs1800961	HNF4A Thr130Ile	Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional...	Blood Sugar & Diabetes	Insulin	Moderate
rs1801278	IRS1 Gly972Arg (G972R)	Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph...	Blood Sugar & Diabetes	Insulin	Strong
rs2304795	PLIN1	Synonymous exon 8 variant in perilipin 1 that tags a haplotype associated wit...	Fat Storage & Energy	Insulin	Moderate
rs2727270	FADS2	Intronic regulatory variant in FADS2 that tags a 10-SNP haplotype reducing ba...	Triglycerides & Fatty Acids	Insulin	Moderate
rs1884613	HNF4A HNF4A P2 Promoter T2D Variant	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the G allele s...	Blood Sugar & Diabetes	Insulin	Moderate
rs2605100	LYPLAL1	Intronic variant in the LYPLAL1 locus associated with waist-hip ratio and fat...	Fat Storage & Energy	Insulin	Strong
rs696217	GHRL Leu72Met	Missense variant in the ghrelin prepropeptide that impairs postprandial ghrel...	Appetite & Obesity	Insulin	Moderate
rs2287161	CRY1 3' Downstream G>C	Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep t...	Hormones & Sleep	Insulin	Strong
rs6905288	VEGFA	Adipose tissue vascularization variant near VEGFA influencing fat distributio...	Vascular Inflammation & Remodeling	Insulin	Moderate
rs193929374	GCK GCK Ala378Val (MODY2)	Pathogenic missense variant in glucokinase that raises the glucose set-point ...	Blood Sugar & Diabetes	Insulin	Established
rs2291725	GIP Ser103Gly	Missense variant in the GIP incretin hormone that changes its bioactivity and...	Hormones & Sleep	Insulin	Moderate
rs266729	ADIPOQ -11391G>C	Promoter variant reducing adiponectin transcription, increasing T2D, NAFLD, a...	Fat Storage & Energy	Insulin	Strong
rs2059807	INSR INSR intronic variant	Intronic INSR variant associated with PCOS susceptibility and metabolic syndr...	Blood Sugar & Diabetes	Insulin	Moderate
rs2854747	IGFBP3	Intronic variant in IGFBP3 — the gene encoding the main carrier protein for I...	Fat Storage & Energy	Insulin	Moderate
rs4235308	PPARGC1A	Intronic variant in the PGC-1alpha gene linked to population-specific type 2 ...	Fitness & Body	Insulin	Emerging
rs7566605	INSIG2	Upstream regulatory variant near INSIG2 that influences lipogenesis control a...	Appetite & Obesity	Insulin	Moderate
rs2229431	INSR	Synonymous exon 13 variant in the insulin receptor gene; the A allele has bee...	Blood Sugar & Diabetes	Insulin	Emerging
rs2233580	PAX4 Arg192His	Missense variant that impairs PAX4's ability to repress insulin and glucagon ...	Blood Sugar & Diabetes	Insulin	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	Insulin	Moderate
rs358806	WNT5A	Regulatory variant near WNT5A linked to type 2 diabetes risk via impaired Wnt...	Fat Storage & Energy	Insulin	Moderate
rs2268574	GCK c.679+38T>G	Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen...	Blood Sugar & Diabetes	Insulin	Emerging
rs3803304	AKT1	Intronic AKT1 variant near a conserved exon-intron boundary; the G allele is ...	Longevity & Aging	Insulin	Moderate
rs2295490	TRIB3 Q84R	TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing ...	Blood Sugar & Diabetes	Insulin	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	Insulin	Moderate
rs6902123	PPARD	Intronic PPARD variant that independently impairs hepatic fat mobilization du...	Fitness & Body	Insulin	Moderate
rs2758151	SGK1	Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — ...	Blood Sugar & Diabetes	Insulin	Moderate
rs290475	TCF7L2 TCF7L2 Beta Cell Function Depth Variant	Intronic TCF7L2 variant tagging a distinct haplotype with emerging evidence f...	Blood Sugar & Diabetes	Insulin	Emerging
rs2943641	IRS1 Near-gene C>T	Regulates insulin signaling efficiency and cellular glucose uptake	Blood Sugar & Diabetes	Insulin	Strong
rs4810424	R3HDML R3HDML rs4810424	Intronic variant tagging the HNF4A P2 promoter risk haplotype; C allele carri...	Fat Storage & Energy	Insulin	Moderate
rs3787345	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype b...	Blood Sugar & Diabetes	Insulin	Moderate
rs4994	ADRB3 Trp64Arg	Beta-3 adrenergic receptor variant that impairs catecholamine-stimulated lipo...	Fat Storage & Energy	Insulin	Moderate
rs391300	SRR SRR rs391300	Intronic variant in serine racemase that alters D-serine production in pancre...	Blood Sugar & Diabetes	Insulin	Moderate
rs660339	UCP2 Ala55Val	Missense variant reducing mitochondrial uncoupling efficiency in white adipos...	Fat Storage & Energy	Insulin	Moderate
rs397514580	GCK GCK MODY2 E339K	Pathogenic glucokinase missense variant causing maturity-onset diabetes of th...	Blood Sugar & Diabetes	Insulin	Strong
rs4607517	GCK GCK fasting glucose GWAS variant	Common intronic variant near glucokinase that raises fasting glucose by impai...	Blood Sugar & Diabetes	Insulin	Strong
rs4753426	MTNR1B	Promoter variant in the melatonin receptor 1B gene that alters MTNR1B express...	Hormones & Sleep	Insulin	Moderate
rs4807015	PTPRS PTPRS T2D risk variant	Intronic PTPRS variant that tags elevated type 2 diabetes risk in both sexes ...	Blood Sugar & Diabetes	Insulin	Moderate
rs4812829	HNF4A HNF4A Intronic T2D Risk Variant	Common intronic variant in HNF4A associated with modestly elevated type 2 dia...	Blood Sugar & Diabetes	Insulin	Strong
rs709158	PPARG	Intronic PPARG variant in strong linkage disequilibrium with rs1175543; the G...	Fat Storage & Energy	Insulin	Emerging
rs492594	G6PC2 Val219Leu	Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting...	Blood Sugar & Diabetes	Insulin	Moderate
rs7649970	PPARG PPARG C-689T	PPARG PPARγ2 P2 promoter variant that reduces basal promoter activity, elevat...	Fat Storage & Energy	Insulin	Moderate
rs5015480	HHEX HHEX/IDE locus variant	Regulatory variant near HHEX and IDE linked to impaired beta-cell development...	Blood Sugar & Diabetes	Insulin	Established
rs5210	KCNJ11 KCNJ11 Kir6.2 Co-Variant	A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression ...	Blood Sugar & Diabetes	Insulin	Moderate
rs5219	KCNJ11 E23K	Controls the pancreatic beta-cell potassium channel that regulates insulin se...	Blood Sugar & Diabetes	Insulin	Strong
rs564398	CDKN2B-AS1	Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS...	Blood Sugar & Diabetes	Insulin	Moderate
rs6020611	PTPN1	Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele i...	Blood Sugar & Diabetes	Insulin	Moderate
rs6031551	HNF4A HNF4A Regulatory Variant	Intronic variant 80 bp from rs6031552 within the HNF4A P2 promoter haplotype ...	Blood Sugar & Diabetes	Insulin	Emerging
rs6031552	HNF4A HNF4A Regulatory Variant	Intronic variant tagging the HNF4A P2 promoter haplotype; carriers have modes...	Blood Sugar & Diabetes	Insulin	Moderate
rs56051278	GPD2	Intronic variant in GPD2 (mitochondrial glycerol-3-phosphate dehydrogenase), ...	Neurology & Cognition	Insulin	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	Insulin	Strong
rs7202877	CTRB1	Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio...	Blood Sugar & Diabetes	Insulin	Strong
rs780096	GCKR GCKR Metabolic Balance Variant	Intronic GCKR enhancer variant that modulates FOXA2-driven GCKR expression in...	Blood Sugar & Diabetes	Insulin	Moderate
rs7903146	TCF7L2	Main type 2 diabetes risk variant - strongly modulated by dietary fat	Blood Sugar & Diabetes	Insulin	Established
rs914458	PTPN1 PTPN1 downstream variant	Downstream regulatory variant 10 kb 3' of PTPN1 (PTP1B) associated with type ...	Blood Sugar & Diabetes	Insulin	Emerging
rs9402571	SGK1	Regulatory variant in SGK1 (serum/glucocorticoid regulated kinase 1) — the mi...	Blood Sugar & Diabetes	Insulin	Moderate
rs941798	PTPN1	Intronic PTPN1 variant tagging a haplotype block associated with reduced insu...	Blood Sugar & Diabetes	Insulin	Moderate