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	Diabetes	Strong
rs10305420	GLP1R Pro7Leu	GLP-1 receptor signal peptide variant that enhances semaglutide and tirzepati...	Pharmacogenomics	Diabetes	Moderate
rs10195252	GRB14/COBLL1	Intergenic variant between GRB14 and COBLL1 that acts as an eQTL for GRB14 in...	Blood Sugar & Diabetes	Diabetes	Strong
rs10305492	GLP1R A316T	Rare protective missense variant in the GLP-1 receptor associated with lower ...	Pharmacogenomics	Diabetes	Strong
rs10278336	YKT6 GCK-Region Intronic Variant	Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWA...	Blood Sugar & Diabetes	Diabetes	Moderate
rs10515237	PCSK1 PCSK1 A/G (rs10515237)	Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, red...	Appetite & Obesity	Diabetes	Moderate
rs1042044	GLP1R Leu260Phe	GLP-1 receptor variant in intracellular loop 2 that alters receptor surface e...	Pharmacogenomics	Diabetes	Moderate
rs10423928	GIPR	Intronic GIPR variant that reduces functional GIP receptor expression via alt...	Blood Sugar & Diabetes	Diabetes	Strong
rs1063537	ADIPOQ	3'UTR variant in ADIPOQ that modulates adiponectin mRNA stability; the common...	Fat Storage & Energy	Diabetes	Moderate
rs10766383	NUCB2	Intronic NUCB2 variant associated with type 2 diabetes risk in females and or...	Hormones & Sleep	Diabetes	Moderate
rs10767664	BDNF	Obesity GWAS locus in a conserved BDNF enhancer - reduces hypothalamic BDNF e...	Appetite & Obesity	Diabetes	Strong
rs1044498	ENPP1 K121Q	ENPP1 K121Q variant that increases ENPP1 binding affinity to the insulin rece...	Blood Sugar & Diabetes	Diabetes	Strong
rs10830963	MTNR1B Intron C>G	Melatonin receptor variant that extends nighttime melatonin signaling in panc...	Hormones & Sleep	Diabetes	Established
rs104894005	GCK Glu279Ter (MODY2)	Pathogenic glucokinase nonsense variant introducing a premature stop codon th...	Blood Sugar & Diabetes	Diabetes	Established
rs10865710	PPARG PPARG C-681G	PPARG promoter-region enhancer variant that reduces PPARgamma expression, inc...	Fat Storage & Energy	Diabetes	Moderate
rs10938397	GNPDA2	GIANT consortium GWAS obesity locus near GNPDA2 — affects hexosamine-pathway-...	Appetite & Obesity	Diabetes	Strong
rs11212617	ATM	Intronic variant near the ATM gene affecting metformin's activation of AMPK; ...	Longevity & Aging	Diabetes	Moderate
rs104894007	GCK Thr228Met (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Diabetes	Established
rs10882283	RBP4 RBP4 rs10882283	5' UTR variant in RBP4 that influences expression of retinol binding protein ...	Fat Storage & Energy	Diabetes	Moderate
rs11037909	EXT2	Intronic EXT2 variant associated with a modest increase in type 2 diabetes su...	Appetite & Obesity	Diabetes	Moderate
rs104894008	GCK Gly261Arg (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Diabetes	Established
rs11061937	ADIPOR2 ADIPOR2 rs11061937	Intronic ADIPOR2 variant associated with cardiovascular disease risk in indiv...	Fat Storage & Energy	Diabetes	Moderate
rs1137101	LEPR Q223R (Gln223Arg)	Common leptin receptor variant in the leptin-binding domain affecting satiety...	Hormones & Sleep	Diabetes	Moderate
rs104894009	GCK Arg191Trp (MODY2)	Pathogenic glucokinase missense variant that raises the beta-cell glucose sen...	Blood Sugar & Diabetes	Diabetes	Established
rs11061946	ADIPOR2	Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed ...	Fat Storage & Energy	Diabetes	Emerging
rs104894011	GCK Glu265Lys (MODY2)	Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ...	Blood Sugar & Diabetes	Diabetes	Established
rs12640088	PPARGC1A	Intronic variant in PPARGC1A that may modulate PGC-1alpha expression and mito...	Fitness & Body	Diabetes	Emerging
rs10811661	CDKN2B	Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al...	Blood Sugar & Diabetes	Diabetes	Strong
rs1205	CRP +1846C>T	3' UTR variant that modulates baseline C-reactive protein levels and inflamma...	Vascular Inflammation & Remodeling	Diabetes	Strong
rs10885122	ADRA2A ADRA2A Beta-Cell cAMP Variant	Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor ex...	Blood Sugar & Diabetes	Diabetes	Moderate
rs1152003	PPARG	PPARG 3'-flanking region variant — the G allele independently tags a PPARG re...	Fat Storage & Energy	Diabetes	Emerging
rs11605924	CRY2 Intron Variant	Circadian clock gene variant affecting fasting glucose, hepatic lipid metabol...	Hormones & Sleep	Diabetes	Strong
rs13407913	ADCY3	Intronic variant in the adenylyl cyclase 3 gene, which encodes a cAMP-produci...	Fitness & Body	Diabetes	Emerging
rs2972164	PPARG	Intronic PPARG variant associated with rate of change in insulin sensitivity ...	Liver Fat	Diabetes	Moderate
rs10885406	TCF7L2 TCF7L2 Wnt Signaling Depth Variant	Intronic TCF7L2 variant tagging the diabetes-risk haplotype and associated wi...	Blood Sugar & Diabetes	Diabetes	Moderate
rs11590235	SKI	TGF-beta signaling regulator variant identified as the top shared locus betwe...	Cardiomyopathy & Structural Heart	Diabetes	Moderate
rs116862713	PRKAB1	Rare AMPK beta-1 subunit variant linking central energy sensing to shared mig...	Fat Storage & Energy	Diabetes	Emerging
rs1501299	ADIPOQ +276G>T	Intronic variant in the adiponectin gene that influences circulating adiponec...	Coronary Artery Disease & Atherosclerosis	Diabetes	Moderate
rs17166496	FSTL4 FSTL4 rs17166496	Intronic variant in FSTL4 (Follistatin-Like 4) on chromosome 5q31; heterozygo...	Appetite & Obesity	Diabetes	Emerging
rs10954640	ENPP1 ENPP1 3'UTR Variant	Intergenic variant near ENPP1-associated regulatory loci; T allele is associa...	Blood Sugar & Diabetes	Diabetes	Emerging
rs1175540	PPARG PPARG rs1175540	Intronic PPARG variant associated with differential weight loss response to c...	Fat Storage & Energy	Diabetes	Moderate
rs17782313	MC4R Near-gene C>T	Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me...	Appetite & Obesity	Diabetes	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	Diabetes	Established
rs1175543	PPARG PPARG rs1175543	Intronic PPARG variant in strong linkage disequilibrium with rs709158; the G ...	Fat Storage & Energy	Diabetes	Emerging
rs1143699	PTPRS PTPRS C/T (rs1143699)	Synonymous PTPRS variant associated with increased type 2 diabetes risk in me...	Blood Sugar & Diabetes	Diabetes	Moderate
rs1175544	PPARG PPARG rs1175544	Intronic PPARG variant that accounts for ~7% of individual variation in body ...	Fat Storage & Energy	Diabetes	Emerging
rs1841499	NEGR1	Hypothalamic appetite regulator variant linking obesity susceptibility to mig...	Appetite & Obesity	Diabetes	Moderate
rs563694	ABCB11 G6PC2/ABCB11 fasting glucose locus	Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula...	Liver Fat	Diabetes	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	Diabetes	Strong
rs11868035	SREBF1	SREBF1 intronic/3'UTR variant affecting SREBP-1c expression, associated with ...	Fat Storage & Energy	Diabetes	Moderate
rs184660829	DENND2C	Rare intronic variant near a DENND2C splice site associated with an 8-fold in...	Appetite & Obesity	Diabetes	Moderate
rs1169288	HNF1A HNF1A Ile27Leu	Common coding variant in the HNF1A transcription factor dimerization domain t...	Blood Sugar & Diabetes	Diabetes	Strong
rs16847897	TERC	Regulatory variant at the TERC locus associated with shorter telomeres and ac...	Longevity & Aging	Diabetes	Strong
rs17697419	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene; the min...	Vascular Inflammation & Remodeling	Diabetes	Moderate
rs11705701	IGF2BP2 IGF2BP2 Insulin Signaling Variant	Upstream regulatory variant in IGF2BP2 that shifts mRNA isoform balance in ad...	Blood Sugar & Diabetes	Diabetes	Moderate
rs12304921	SLC11A2	Intronic variant in SLC11A2 (DMT1), the primary intestinal iron transporter, ...	Fat Storage & Energy	Diabetes	Emerging
rs17697515	VEGFC	Intronic VEGFC variant independently associated with reduced diabetic retinop...	Vascular Inflammation & Remodeling	Diabetes	Moderate
rs28647808	ADAMTS13 Pro618Ala	Missense variant in the spacer domain of ADAMTS13 that reduces VWF-cleaving p...	Von Willebrand & Anticoagulant Proteins	Diabetes	Moderate
rs11708067	ADCY5 ADCY5 Glucose Signaling Variant	Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet...	Blood Sugar & Diabetes	Diabetes	Strong
rs12490265	PPARG PPARG Intronic Haplotype Variant	Intronic PPARG variant in a metabolic syndrome–associated haplotype block; th...	Fat Storage & Energy	Diabetes	Emerging
rs193922339	GCK	Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss...	Metabolic Enzymes & Rare Disorders	Diabetes	Strong
rs231806	CTLA4	Upstream regulatory variant in the CTLA4 MH30 region associated with latent a...	Autoimmune Tolerance & T-Cell Regulation	Diabetes	Emerging
rs12243326	TCF7L2 TCF7L2 Incretin Response Depth Variant	Intronic TCF7L2 depth variant replicated across multiple populations as a sec...	Blood Sugar & Diabetes	Diabetes	Moderate
rs12636454	PPARG PPARG rs12636454	Intronic PPARG variant associated with modest reduction in type 2 diabetes ri...	Fat Storage & Energy	Diabetes	Emerging
rs1805097	IRS2 Gly1057Asp	Missense IRS2 variant where Asp/Asp homozygotes are twice as likely to reach ...	Longevity & Aging	Diabetes	Moderate
rs12255372	TCF7L2	Second TCF7L2 diabetes variant - compounds risk with rs7903146	Blood Sugar & Diabetes	Diabetes	Strong
rs1800872	IL10 -592 C>A	Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin...	Vascular Inflammation & Remodeling	Diabetes	Strong
rs2867125	TMEM18 TMEM18 regulatory variant (2p25.3)	Regulatory variant at the TMEM18 locus on chromosome 2p25.3 — one of the most...	Appetite & Obesity	Diabetes	Strong
rs12610022	INSR	Intronic INSR variant that may alter insulin receptor expression or isoform b...	Blood Sugar & Diabetes	Diabetes	Emerging
rs16861194	ADIPOQ -11426A>G	Upstream promoter variant that reduces ADIPOQ transcription, lowering circula...	Fat Storage & Energy	Diabetes	Moderate
rs1799941	SHBG	Promoter region variant affecting sex hormone-binding globulin levels, with t...	Hormones & Sleep	Diabetes	Strong
rs738409	PNPLA3 I148M	Strongest genetic risk factor for non-alcoholic fatty liver disease, progress...	Liver Fat	Diabetes	Established
rs13266634	SLC30A8 Arg325Trp (C>T)	Zinc transporter 8 variant affecting zinc loading into insulin granules, infl...	Blood Sugar & Diabetes	Diabetes	Established
rs1800624	AGER -374T/A	Promoter variant in the AGER gene that increases RAGE transcription approxima...	Hormones & Sleep	Diabetes	Moderate
rs1800795	IL6 -174G/C	Promoter variant controlling interleukin-6 expression — affects inflammation,...	Fitness & Body	Diabetes	Strong
rs3087243	CTLA4 CT60	Immune checkpoint regulatory variant in the 3'UTR affecting T-cell activation...	Autoimmune Tolerance & T-Cell Regulation	Diabetes	Strong
rs780094	GCKR	Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260...	Liver Fat	Diabetes	Strong
rs13429458	THADA THADA PCOS/T2D Variant	Intronic variant in THADA, a gene encoding a calcium channel-regulating prote...	Blood Sugar & Diabetes	Diabetes	Moderate
rs1800625	AGER AGER -429T>C	Promoter variant at position -429 in the AGER gene that increases RAGE transc...	Hormones & Sleep	Diabetes	Moderate
rs137853334	HNF4A HNF4A MODY1 Variant	Pathogenic nonsense variant in HNF4A causing MODY1 — a progressive, autosomal...	Blood Sugar & Diabetes	Diabetes	Established
rs17036314	PPARG	Intronic PPARG variant — carriers of the C allele have elevated fasting gluco...	Fat Storage & Energy	Diabetes	Moderate
rs1402837	G6PC2 G6PC2 Fasting Glucose Variant	Upstream regulatory variant in G6PC2 that modulates pancreatic beta-cell gluc...	Blood Sugar & Diabetes	Diabetes	Strong
rs17300539	ADIPOQ -11391G>A	Promoter variant affecting adiponectin secretion and metabolic syndrome risk	Fat Storage & Energy	Diabetes	Strong
rs1495377	TSPAN8	Intronic variant in TSPAN8 (Tetraspanin 8) associated with reduced insulin se...	Blood Sugar & Diabetes	Diabetes	Strong
rs1884614	HNF4A HNF4A P2 Promoter rs1884614	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the T allele i...	Hormones & Sleep	Diabetes	Moderate
rs1537373	CDKN2B-AS1 ANRIL T2D/Cardiovascular Variant	Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; th...	Blood Sugar & Diabetes	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	Diabetes	Moderate
rs1800849	UCP3 -55C>T	Promoter variant in skeletal muscle uncoupling protein 3 that increases UCP3 ...	Fat Storage & Energy	Diabetes	Moderate
rs1571583	GLIS3 GLIS3 Beta Cell Development Variant	Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, refl...	Blood Sugar & Diabetes	Diabetes	Strong
rs1801282	PPARG Pro12Ala	Insulin sensitivity - affects how well your cells respond to insulin	Fat Storage & Energy	Diabetes	Established
rs1934963	CYP2C9	Deep intronic CYP2C9 variant associated with altered drug response to sulfony...	Pharmacogenomics	Diabetes	Emerging
rs16989673	PTPN1 1484insG	A guanine duplication in the 3'-UTR of PTPN1 (PTP1B) that increases mRNA stab...	Blood Sugar & Diabetes	Diabetes	Moderate
rs182052	ADIPOQ ADIPOQ promoter -10066A>G	Intronic/promoter-region ADIPOQ variant where the A allele reduces circulatin...	Fat Storage & Energy	Diabetes	Strong
rs1862513	RETN -420C>G	Promoter variant that increases resistin expression via Sp1/Sp3 transcription...	Fat Storage & Energy	Diabetes	Moderate
rs1799817	INSR His1085His	Synonymous variant in the tyrosine kinase domain of the insulin receptor; the...	Blood Sugar & Diabetes	Diabetes	Moderate
rs2144908	HNF4A HNF4A P2 Block rs2144908	Intronic HNF4A P2 promoter haplotype tag variant; carriers have modestly impa...	Hormones & Sleep	Diabetes	Moderate
rs2241767	ADIPOQ +349A>G	Intronic variant in the adiponectin gene associated with lower circulating ad...	Fat Storage & Energy	Diabetes	Moderate
rs1799999	PPP1R3A Asp905Tyr	Missense variant in the skeletal muscle glycogen-targeting subunit of protein...	Blood Sugar & Diabetes	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	Diabetes	Emerging
rs62408925	NCK1	Intergenic regulatory variant near NCK1 at 3q22.3; in strong linkage disequil...	Appetite & Obesity	Diabetes	Moderate
rs1800961	HNF4A Thr130Ile	Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional...	Blood Sugar & Diabetes	Diabetes	Moderate
rs2297508	SREBF1 SREBF1 G952G	SREBF1 3' UTR variant that subtly impairs SREBP-1c function, increasing risk ...	Fat Storage & Energy	Diabetes	Moderate
rs2764264	FOXO3	Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit...	Longevity & Aging	Diabetes	Strong
rs6548238	TMEM18	Second strongest obesity GWAS locus after FTO - influences hypothalamic appet...	Appetite & Obesity	Diabetes	Strong
rs1801278	IRS1 Gly972Arg (G972R)	Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph...	Blood Sugar & Diabetes	Diabetes	Strong
rs6947337	INHBA	Activin A signaling variant near INHBA linking adipocyte dysfunction to share...	Appetite & Obesity	Diabetes	Moderate
rs1884613	HNF4A HNF4A P2 Promoter T2D Variant	Intronic variant tagging the HNF4A P2 promoter risk haplotype; the G allele s...	Blood Sugar & Diabetes	Diabetes	Moderate
rs2802292	FOXO3	Longevity-associated intronic enhancer variant with 1.9-fold increased probab...	Longevity & Aging	Diabetes	Established
rs696217	GHRL Leu72Met	Missense variant in the ghrelin prepropeptide that impairs postprandial ghrel...	Appetite & Obesity	Diabetes	Moderate
rs193922485	HNF1B	Rare HNF1B splice-region intronic variant of uncertain significance, found ne...	Blood Sugar & Diabetes	Diabetes	Emerging
rs193929374	GCK GCK Ala378Val (MODY2)	Pathogenic missense variant in glucokinase that raises the glucose set-point ...	Blood Sugar & Diabetes	Diabetes	Established
rs266729	ADIPOQ -11391G>C	Promoter variant reducing adiponectin transcription, increasing T2D, NAFLD, a...	Fat Storage & Energy	Diabetes	Strong
rs7498665	SH2B1 Thr484Ala	Obesity GWAS missense variant in SH2B1 that impairs leptin signaling and incr...	Appetite & Obesity	Diabetes	Strong
rs2059807	INSR INSR intronic variant	Intronic INSR variant associated with PCOS susceptibility and metabolic syndr...	Blood Sugar & Diabetes	Diabetes	Moderate
rs4235308	PPARGC1A	Intronic variant in the PGC-1alpha gene linked to population-specific type 2 ...	Fitness & Body	Diabetes	Emerging
rs2229431	INSR	Synonymous exon 13 variant in the insulin receptor gene; the A allele has bee...	Blood Sugar & Diabetes	Diabetes	Emerging
rs2920502	PPARG PPARG rs2920502	Intronic PPARG variant associated with body fat percentage, impaired glucose ...	Fat Storage & Energy	Diabetes	Moderate
rs2233580	PAX4 Arg192His	Missense variant that impairs PAX4's ability to repress insulin and glucagon ...	Blood Sugar & Diabetes	Diabetes	Strong
rs2289669	SLC47A1 MATE1 G-1853A	Intronic variant in MATE1, the renal and hepatic metformin efflux transporter...	Pharmacogenomics	Diabetes	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	Diabetes	Moderate
rs358806	WNT5A	Regulatory variant near WNT5A linked to type 2 diabetes risk via impaired Wnt...	Fat Storage & Energy	Diabetes	Moderate
rs2268574	GCK c.679+38T>G	Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 referen...	Blood Sugar & Diabetes	Diabetes	Emerging
rs3734254	PPARD T+294C	PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the...	Fat Storage & Energy	Diabetes	Moderate
rs2295490	TRIB3 Q84R	TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing ...	Blood Sugar & Diabetes	Diabetes	Strong
rs3745012	LPIN2 LPIN2 3'UTR variant	3' UTR regulatory variant in LPIN2 (lipin 2) that alters fat distribution and...	Fat Storage & Energy	Diabetes	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	Diabetes	Moderate
rs9939609	FTO Intron 1 T>A	The most strongly replicated obesity-associated variant, affecting body weigh...	Appetite & Obesity	Diabetes	Established
rs2758151	SGK1	Regulatory tagging SNP near SGK1 (serum/glucocorticoid regulated kinase 1) — ...	Blood Sugar & Diabetes	Diabetes	Moderate
rs290475	TCF7L2 TCF7L2 Beta Cell Function Depth Variant	Intronic TCF7L2 variant tagging a distinct haplotype with emerging evidence f...	Blood Sugar & Diabetes	Diabetes	Emerging
rs3856806	PPARG His477His (C1431T)	Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and ...	Fat Storage & Energy	Diabetes	Strong
rs2943641	IRS1 Near-gene C>T	Regulates insulin signaling efficiency and cellular glucose uptake	Blood Sugar & Diabetes	Diabetes	Strong
rs3487348	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 variant in the 100-kb haplotype block; T allele associated wit...	Blood Sugar & Diabetes	Diabetes	Moderate
rs367643250	DYRK1B R102C	Rare gain-of-function variant causing autosomal dominant metabolic syndrome (...	Blood Sugar & Diabetes	Diabetes	Strong
rs4810424	R3HDML R3HDML rs4810424	Intronic variant tagging the HNF4A P2 promoter risk haplotype; C allele carri...	Fat Storage & Energy	Diabetes	Moderate
rs3787345	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype b...	Blood Sugar & Diabetes	Diabetes	Moderate
rs4994	ADRB3 Trp64Arg	Beta-3 adrenergic receptor variant that impairs catecholamine-stimulated lipo...	Fat Storage & Energy	Diabetes	Moderate
rs316019	SLC22A2 Ala270Ser	Reduces OCT2 organic cation transporter function in the kidney, lowering metf...	Pharmacogenomics	Diabetes	Moderate
rs3787348	PTPN1 PTPN1 intronic variant	Intronic PTPN1 tag SNP within the 100-kb insulin-resistance haplotype block; ...	Blood Sugar & Diabetes	Diabetes	Moderate
rs391300	SRR SRR rs391300	Intronic variant in serine racemase that alters D-serine production in pancre...	Blood Sugar & Diabetes	Diabetes	Moderate
rs660339	UCP2 Ala55Val	Missense variant reducing mitochondrial uncoupling efficiency in white adipos...	Fat Storage & Energy	Diabetes	Moderate
rs397514580	GCK GCK MODY2 E339K	Pathogenic glucokinase missense variant causing maturity-onset diabetes of th...	Blood Sugar & Diabetes	Diabetes	Strong
rs6809631	PPARG	Intronic PPARG promoter tagSNP associated with modest reduction in type 2 dia...	Fat Storage & Energy	Diabetes	Emerging
rs4607517	GCK GCK fasting glucose GWAS variant	Common intronic variant near glucokinase that raises fasting glucose by impai...	Blood Sugar & Diabetes	Diabetes	Strong
rs4753426	MTNR1B	Promoter variant in the melatonin receptor 1B gene that alters MTNR1B express...	Hormones & Sleep	Diabetes	Moderate
rs4807015	PTPRS PTPRS T2D risk variant	Intronic PTPRS variant that tags elevated type 2 diabetes risk in both sexes ...	Blood Sugar & Diabetes	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	Diabetes	Moderate
rs8192678	PPARGC1A Gly482Ser	Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha...	Longevity & Aging	Diabetes	Strong
rs4812829	HNF4A HNF4A Intronic T2D Risk Variant	Common intronic variant in HNF4A associated with modestly elevated type 2 dia...	Blood Sugar & Diabetes	Diabetes	Strong
rs3765467	GLP1R Arg131Gln	Missense variant in the GLP-1 receptor that alters drug response to GLP-1 ago...	Pharmacogenomics	Diabetes	Moderate
rs492594	G6PC2 Val219Leu	Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting...	Blood Sugar & Diabetes	Diabetes	Moderate
rs5015480	HHEX HHEX/IDE locus variant	Regulatory variant near HHEX and IDE linked to impaired beta-cell development...	Blood Sugar & Diabetes	Diabetes	Established
rs767870	ADIPOR2 ADIPOR2 intron 6 variant	Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced ...	Fat Storage & Energy	Diabetes	Moderate
rs5030868	G6PD G6PD Mediterranean	Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less ...	Blood Sugar & Diabetes	Diabetes	Established
rs5210	KCNJ11 KCNJ11 Kir6.2 Co-Variant	A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression ...	Blood Sugar & Diabetes	Diabetes	Moderate
rs5219	KCNJ11 E23K	Controls the pancreatic beta-cell potassium channel that regulates insulin se...	Blood Sugar & Diabetes	Diabetes	Strong
rs9817428	PPARG PPARG promoter tagSNP	Intronic PPARG tagSNP with cross-ethnic replication for type 2 diabetes risk ...	Fat Storage & Energy	Diabetes	Emerging
rs564398	CDKN2B-AS1	Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS...	Blood Sugar & Diabetes	Diabetes	Moderate
rs587777380	DYRK1B H90P / H90R	Multi-allelic pathogenic locus — both H90P (T>G) and H90R (T>C) disrupt the D...	Blood Sugar & Diabetes	Diabetes	Strong
rs6020611	PTPN1	Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele i...	Blood Sugar & Diabetes	Diabetes	Moderate
rs6031551	HNF4A HNF4A Regulatory Variant	Intronic variant 80 bp from rs6031552 within the HNF4A P2 promoter haplotype ...	Blood Sugar & Diabetes	Diabetes	Emerging
rs6031552	HNF4A HNF4A Regulatory Variant	Intronic variant tagging the HNF4A P2 promoter haplotype; carriers have modes...	Blood Sugar & Diabetes	Diabetes	Moderate
rs6067484	PTPN1 PTPN1 rs6067484	Intronic PTPN1 tag SNP within the 100-kb T2D-risk haplotype block — carriers ...	Blood Sugar & Diabetes	Diabetes	Moderate
rs653178	SH2B3 ATXN2/SH2B3 12q24 pleiotropic locus	Pleiotropic 12q24 locus variant in SH2B3 (LNK) modulating JAK-STAT cytokine s...	Blood Sugar & Diabetes	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	Diabetes	Strong
rs7202877	CTRB1	Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio...	Blood Sugar & Diabetes	Diabetes	Strong
rs76723693	G6PD G6PD Nefza (c.968T>C)	Missense variant in glucose-6-phosphate dehydrogenase causing Class III G6PD ...	Blood Sugar & Diabetes	Diabetes	Strong
rs780095	GCKR GCKR Glucose-Lipid Regulation Variant	Intronic GCKR enhancer variant on the CGG regulatory haplotype; the G allele ...	Blood Sugar & Diabetes	Diabetes	Moderate
rs780096	GCKR GCKR Metabolic Balance Variant	Intronic GCKR enhancer variant that modulates FOXA2-driven GCKR expression in...	Blood Sugar & Diabetes	Diabetes	Moderate
rs7903146	TCF7L2	Main type 2 diabetes risk variant - strongly modulated by dietary fat	Blood Sugar & Diabetes	Diabetes	Established
rs622342	SLC22A1 A>C	Intronic variant in the OCT1 organic cation transporter reducing hepatic metf...	Pharmacogenomics	Diabetes	Moderate
rs914458	PTPN1 PTPN1 downstream variant	Downstream regulatory variant 10 kb 3' of PTPN1 (PTP1B) associated with type ...	Blood Sugar & Diabetes	Diabetes	Emerging
rs9402571	SGK1	Regulatory variant in SGK1 (serum/glucocorticoid regulated kinase 1) — the mi...	Blood Sugar & Diabetes	Diabetes	Moderate
rs941798	PTPN1	Intronic PTPN1 variant tagging a haplotype block associated with reduced insu...	Blood Sugar & Diabetes	Diabetes	Moderate
rs6923761	GLP1R Gly168Ser	GLP-1 receptor variant that alters response to GLP-1 agonist medications used...	Pharmacogenomics	Diabetes	Moderate