Tag

Metabolic

119 genetic variants with this tag.

RSID	Gene	Description	Category
rs1000940	RABEP1 RABEP1 Metabolic-Immune Regulatory Variant	Intronic variant in RABEP1 associated with fasting glucose modulation under p...	Autoimmune Tolerance & T-Cell Regulation	Metabolic	Emerging
rs10010131	WFS1 WFS1 Intron 4 T2D Risk Variant	Intronic variant in WFS1 (wolframin) on chromosome 4q22, one of the earliest ...	Blood Sugar & Diabetes	Metabolic	Strong
rs1001179	CAT -262C>T	Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...	Methylation & Detox	Metabolic	Strong
rs113994167	ACADVL p.Val283Ala (V283A)	Most common VLCAD deficiency variant in the US, causing mild late-onset disea...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs1054564	GDF15 GDF15 3'UTR rs1054564	3'UTR variant that controls GDF15 expression via microRNA regulation — C alle...	Endometriosis & Uterine Health	Metabolic	Moderate
rs1064608	MTCH2 Pro290Ala	Missense variant in MTCH2 that reduces mitochondrial metabolic efficiency, in...	Hormones & Sleep	Metabolic	Moderate
rs1148259	ANKRD30A	Synonymous variant in the 3′ UTR of ANKRD30A associated with altered circulat...	Metabolic Enzymes & Rare Disorders	Metabolic	Emerging
rs10166942	TRPM8	Upstream regulatory variant of the cold-sensing TRPM8 channel that modulates ...	Neurology & Cognition	Metabolic	Strong
rs10838738	MTCH2	Intronic GWAS obesity variant in MTCH2 — affects mitochondrial energy balance...	Appetite & Obesity	Metabolic	Moderate
rs10852521	FTO	FTO intron 1 variant associated with BMI and body fat accumulation, with stro...	Fitness & Body	Metabolic	Moderate
rs118204437	GALNS Arg386Cys	Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carri...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs104894005	GCK Glu279Ter (MODY2)	Pathogenic glucokinase nonsense variant introducing a premature stop codon th...	Blood Sugar & Diabetes	Metabolic	Established
rs10865710	PPARG PPARG C-681G	PPARG promoter-region enhancer variant that reduces PPARgamma expression, inc...	Fat Storage & Energy	Metabolic	Moderate
rs10938397	GNPDA2	GIANT consortium GWAS obesity locus near GNPDA2 — affects hexosamine-pathway-...	Appetite & Obesity	Metabolic	Strong
rs119103258	PYGM	Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs10882283	RBP4 RBP4 rs10882283	5' UTR variant in RBP4 that influences expression of retinol binding protein ...	Fat Storage & Energy	Metabolic	Moderate
rs121434280	ACADM ACADM Y67H	Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitiv...	Metabolic Enzymes & Rare Disorders	Metabolic	Strong
rs1800591	MTTP MTTP -493G/T	Promoter-region variant in MTTP that reduces hepatic MTTP transcription; the ...	Liver Fat	Metabolic	Moderate
rs104894008	GCK Gly261Arg (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Metabolic	Established
rs121434281	ACADM S245L	Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medi...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs150090666	PDE3B PDE3B R783X	Loss-of-function variant in phosphodiesterase 3B — carriers have enhanced cAM...	Triglycerides & Fatty Acids	Metabolic	Strong
rs199673455	GPD1	Pathogenic missense variant in glycerol-3-phosphate dehydrogenase 1; homozygo...	Liver Fat	Metabolic	Strong
rs104894009	GCK Arg191Trp (MODY2)	Pathogenic glucokinase missense variant that raises the beta-cell glucose sen...	Blood Sugar & Diabetes	Metabolic	Established
rs11152221	MC4R MC4R Proximal LD Block Variant	Intergenic variant in the proximal 3' regulatory block near MC4R associated w...	Appetite & Obesity	Metabolic	Strong
rs121434282	ACADM Arg281Thr	Pathogenic missense variant in the MCAD enzyme causing medium-chain acyl-CoA ...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs11644943	FTO FTO Mid-Gene Intron Variant	An intronic FTO variant outside the well-known intron-1 obesity cluster; the ...	Appetite & Obesity	Metabolic	Emerging
rs121434369	GCDH R402W (Arg402Trp)	Most common European allele for glutaric acidemia type 1; complete loss of GC...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs10811661	CDKN2B	Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al...	Blood Sugar & Diabetes	Metabolic	Strong
rs10885122	ADRA2A ADRA2A Beta-Cell cAMP Variant	Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor ex...	Blood Sugar & Diabetes	Metabolic	Moderate
rs12970134	MC4R MC4R region variant	Near-gene variant ~188kb downstream of MC4R associated with increased waist c...	Appetite & Obesity	Metabolic	Strong
rs13407913	ADCY3	Intronic variant in the adenylyl cyclase 3 gene, which encodes a cAMP-produci...	Fitness & Body	Metabolic	Emerging
rs2296241	CYP24A1	Synonymous coding variant in CYP24A1 (vitamin D 24-hydroxylase) that tags fun...	Vitamin D Metabolism	Metabolic	Moderate
rs2972164	PPARG	Intronic PPARG variant associated with rate of change in insulin sensitivity ...	Liver Fat	Metabolic	Moderate
rs137852769	HADHA p.Glu510Gln	Most common LCHAD deficiency variant; homozygosity causes severe mitochondria...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs1420318	FTO	FTO intron 8 variant associated with nominal spine bone mineral density effec...	Fitness & Body	Metabolic	Emerging
rs17782313	MC4R Near-gene C>T	Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me...	Appetite & Obesity	Metabolic	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	Metabolic	Established
rs1800544	ADRA2A ADRA2A Promoter -1291C>G	Promoter variant that alters alpha-2A adrenergic receptor expression, affecti...	Appetite & Obesity	Metabolic	Moderate
rs142967670	GCDH R88C	Pathogenic missense variant in glutaryl-CoA dehydrogenase; homozygosity cause...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs199971687	MMAB	Pathogenic splice acceptor variant in MMAB that abolishes adenosylcobalamin s...	Vitamins & Nutrient Absorption	Metabolic	Established
rs563694	ABCB11 G6PC2/ABCB11 fasting glucose locus	Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula...	Liver Fat	Metabolic	Strong
rs146582474	SLC7A7	Finnish founder splice acceptor mutation abolishing y+LAT1 transport activity...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs2271194	ERBB3 ERBB3/RAB5B PCOS Metabolic	A splice-region variant at the ERBB3/RAB5B locus on chromosome 12q13.2, a rep...	Fertility & Ovarian Function	Metabolic	Strong
rs58542926	TM6SF2 E167K	Lipid transport variant that impairs VLDL secretion, creating a paradoxical t...	Liver Fat	Metabolic	Strong
rs12094543	ZMYM4 ZMYM4 rs12094543	Intronic variant in ZMYM4, a chromatin-remodeling transcription factor whose ...	Fat Storage & Energy	Metabolic	Emerging
rs17219084	FTO	FTO intron variant in the extended obesity-associated region, with explorator...	Fitness & Body	Metabolic	Emerging
rs1799958	ACADS G209S (c.625G>A)	Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase;...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs1943226	MC4R MC4R third tagSNP	Upstream regulatory tag variant ~3 kb proximal to MC4R, included in MC4R hapl...	Appetite & Obesity	Metabolic	Emerging
rs1801175	G6PC1	Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 caus...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs2229616	MC4R V103I	Missense variant in MC4R converting valine to isoleucine at position 103; the...	Appetite & Obesity	Metabolic	Strong
rs1554483	CLOCK	Intronic CLOCK variant whose G allele, in a haplotype with rs4864548 A, confe...	Hormones & Sleep	Metabolic	Moderate
rs193922339	GCK	Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss...	Metabolic Enzymes & Rare Disorders	Metabolic	Strong
rs12243326	TCF7L2 TCF7L2 Incretin Response Depth Variant	Intronic TCF7L2 depth variant replicated across multiple populations as a sec...	Blood Sugar & Diabetes	Metabolic	Moderate
rs12636454	PPARG PPARG rs12636454	Intronic PPARG variant associated with modest reduction in type 2 diabetes ri...	Fat Storage & Energy	Metabolic	Emerging
rs200788251	ACADVL ACADVL p.Gly289Arg	Pathogenic missense variant in ACADVL encoding VLCAD; heterozygous carriers a...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs13412852	LPIN1	Intronic variant in LPIN1 (lipin-1) associated with liver fat accumulation an...	Fat Storage & Energy	Metabolic	Emerging
rs28941784	MMAB Arg186Trp (R186W)	Missense variant eliminating MMAB adenosylcobalamin synthase activity; the mo...	Vitamins & Nutrient Absorption	Metabolic	Established
rs12610022	INSR	Intronic INSR variant that may alter insulin receptor expression or isoform b...	Blood Sugar & Diabetes	Metabolic	Emerging
rs2943634	IRS1	Intergenic variant near IRS1 at 2q36.3 associated with ischemic stroke risk, ...	Coronary Artery Disease & Atherosclerosis	Metabolic	Moderate
rs29941	KCTD15	GWAS obesity locus near KCTD15 — modulates adipogenesis through AP-2 transcri...	Appetite & Obesity	Metabolic	Moderate
rs369296618	MMAB	Nonsense variant in MMAB creating a premature stop codon (Q234*) that impairs...	Vitamins & Nutrient Absorption	Metabolic	Established
rs137853334	HNF4A HNF4A MODY1 Variant	Pathogenic nonsense variant in HNF4A causing MODY1 — a progressive, autosomal...	Blood Sugar & Diabetes	Metabolic	Established
rs476828	MC4R MC4R-region BMI variant	Intergenic variant in the MC4R regulatory haplotype block, tagging the same a...	Appetite & Obesity	Metabolic	Strong
rs6259	SHBG Asp356Asn	Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in matur...	Reproductive Hormones	Metabolic	Moderate
rs6837293	PRKG2	Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele wa...	Uric Acid & Kidney Function	Metabolic	Emerging
rs267606993	PYGM PYGM Met1Val (start-loss)	Pathogenic start-codon variant in muscle glycogen phosphorylase; homozygous o...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs3832024	FMO3 FMO3 c.591_592del	A 2-bp frameshift deletion in FMO3 that creates a premature stop codon at pos...	Vitamins & Nutrient Absorption	Metabolic	Established
rs4788102	SH2B1 SH2B1/APOBR locus variant	Intronic variant at the SH2B1 locus on chromosome 16p11.2 — a key adaptor pro...	Appetite & Obesity	Metabolic	Strong
rs1495377	TSPAN8	Intronic variant in TSPAN8 (Tetraspanin 8) associated with reduced insulin se...	Blood Sugar & Diabetes	Metabolic	Strong
rs489693	MC4R MC4R AIWG variant	Intergenic variant near MC4R with genome-wide significant association with an...	Appetite & Obesity	Metabolic	Strong
rs1800592	UCP1 A-3826G	Promoter variant reducing UCP1 expression in brown adipose tissue, impairing ...	Fat Storage & Energy	Metabolic	Moderate
rs28933978	OTC R141Q (Arg141Gln)	The most common OTC point mutation, abolishing ornithine transcarbamylase enz...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs397507173	BTD	Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely patho...	Vitamins & Nutrient Absorption	Metabolic	Established
rs2197076	FABP1	Intronic FABP1 variant associated with type 2 diabetes risk and insulin resis...	Triglycerides & Fatty Acids	Metabolic	Moderate
rs367543005	ASL p.Gln354Ter (Q354X)	Nonsense mutation in argininosuccinate lyase introducing a premature stop cod...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs571312	MC4R MC4R Regulatory Variant (Appetite Signaling)	Regulatory variant upstream of MC4R associated with increased caloric intake,...	Appetite & Obesity	Metabolic	Strong
rs182052	ADIPOQ ADIPOQ promoter -10066A>G	Intronic/promoter-region ADIPOQ variant where the A allele reduces circulatin...	Fat Storage & Energy	Metabolic	Strong
rs370793608	ALDOB ALDOB Y204X	Nonsense variant in the aldolase B gene creating a premature stop codon at po...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs398123138	BTD	Pathogenic 5-bp frameshift deletion in the biotinidase enzyme gene, eliminati...	Vitamins & Nutrient Absorption	Metabolic	Established
rs6235	PCSK1 PCSK1 S690T (Ser690Thr)	Missense variant encoding the Ser690Thr substitution in the C-terminal domain...	Appetite & Obesity	Metabolic	Strong
rs1799999	PPP1R3A Asp905Tyr	Missense variant in the skeletal muscle glycogen-targeting subunit of protein...	Blood Sugar & Diabetes	Metabolic	Moderate
rs1800961	HNF4A Thr130Ile	Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional...	Blood Sugar & Diabetes	Metabolic	Moderate
rs2297508	SREBF1 SREBF1 G952G	SREBF1 3' UTR variant that subtly impairs SREBP-1c function, increasing risk ...	Fat Storage & Energy	Metabolic	Moderate
rs1801278	IRS1 Gly972Arg (G972R)	Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph...	Blood Sugar & Diabetes	Metabolic	Strong
rs72552272	SLC7A7 L334R	Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs72552297	OTC Asn10fs (c.29_32del)	Frameshift deletion in the OTC gene that eliminates ornithine transcarbamylas...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs74315294	CPT2 p.Ser113Leu (S113L)	Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs2291725	GIP Ser103Gly	Missense variant in the GIP incretin hormone that changes its bioactivity and...	Hormones & Sleep	Metabolic	Moderate
rs4235308	PPARGC1A	Intronic variant in the PGC-1alpha gene linked to population-specific type 2 ...	Fitness & Body	Metabolic	Emerging
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs2920502	PPARG PPARG rs2920502	Intronic PPARG variant associated with body fat percentage, impaired glucose ...	Fat Storage & Energy	Metabolic	Moderate
rs7647305	ETV5	GWAS obesity locus near ETV5 — affects hypothalamic appetite regulation and f...	Appetite & Obesity	Metabolic	Moderate
rs2233580	PAX4 Arg192His	Missense variant that impairs PAX4's ability to repress insulin and glucagon ...	Blood Sugar & Diabetes	Metabolic	Strong
rs8087522	MC4R MC4R A/G (rs8087522)	Upstream regulatory variant near MC4R that may create a transcription factor ...	Appetite & Obesity	Metabolic	Emerging
rs3734254	PPARD T+294C	PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the...	Fat Storage & Energy	Metabolic	Moderate
rs62623713	SYPL2 E99G	Low-frequency missense variant in SYPL2 associated with morbid obesity suscep...	Fitness & Body	Metabolic	Emerging
rs2295490	TRIB3 Q84R	TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing ...	Blood Sugar & Diabetes	Metabolic	Strong
rs3745012	LPIN2 LPIN2 3'UTR variant	3' UTR regulatory variant in LPIN2 (lipin 2) that alters fat distribution and...	Fat Storage & Energy	Metabolic	Moderate
rs3774261	ADIPOQ ADIPOQ rs3774261	Intronic ADIPOQ variant that reduces circulating adiponectin levels in G alle...	Fat Storage & Energy	Metabolic	Moderate
rs9939609	FTO Intron 1 T>A	The most strongly replicated obesity-associated variant, affecting body weigh...	Appetite & Obesity	Metabolic	Established
rs3816873	MTTP MTTP I128T	Missense variant in MTTP (microsomal triglyceride transfer protein) at residu...	Fat Storage & Energy	Metabolic	Moderate
rs7181866	GABPB1	Intronic variant in the mitochondrial biogenesis regulator NRF2, associated w...	Fitness & Body	Metabolic	Moderate
rs2943641	IRS1 Near-gene C>T	Regulates insulin signaling efficiency and cellular glucose uptake	Blood Sugar & Diabetes	Metabolic	Strong
rs3487348	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 variant in the 100-kb haplotype block; T allele associated wit...	Blood Sugar & Diabetes	Metabolic	Moderate
rs391300	SRR SRR rs391300	Intronic variant in serine racemase that alters D-serine production in pancre...	Blood Sugar & Diabetes	Metabolic	Moderate
rs6809631	PPARG	Intronic PPARG promoter tagSNP associated with modest reduction in type 2 dia...	Fat Storage & Energy	Metabolic	Emerging
rs5085	APOA2 APOA2 rs5085	Intronic APOA2 tag SNP that captures the saturated fat-weight gain interactio...	Triglycerides & Fatty Acids	Metabolic	Strong
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	Metabolic	Moderate
rs5956	CD36	Synonymous coding variant in CD36 fatty acid translocase; the minor A allele ...	Triglycerides & Fatty Acids	Metabolic	Emerging
rs492594	G6PC2 Val219Leu	Coding variant in the islet glucose-6-phosphatase that fine-tunes the fasting...	Blood Sugar & Diabetes	Metabolic	Moderate
rs7649970	PPARG PPARG C-689T	PPARG PPARγ2 P2 promoter variant that reduces basal promoter activity, elevat...	Fat Storage & Energy	Metabolic	Moderate
rs5015480	HHEX HHEX/IDE locus variant	Regulatory variant near HHEX and IDE linked to impaired beta-cell development...	Blood Sugar & Diabetes	Metabolic	Established
rs767870	ADIPOR2 ADIPOR2 intron 6 variant	Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced ...	Fat Storage & Energy	Metabolic	Moderate
rs5210	KCNJ11 KCNJ11 Kir6.2 Co-Variant	A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression ...	Blood Sugar & Diabetes	Metabolic	Moderate
rs5219	KCNJ11 E23K	Controls the pancreatic beta-cell potassium channel that regulates insulin se...	Blood Sugar & Diabetes	Metabolic	Strong
rs9817428	PPARG PPARG promoter tagSNP	Intronic PPARG tagSNP with cross-ethnic replication for type 2 diabetes risk ...	Fat Storage & Energy	Metabolic	Emerging
rs564398	CDKN2B-AS1	Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS...	Blood Sugar & Diabetes	Metabolic	Moderate
rs6017340	HNF4A HNF4A Regulatory Variant	Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation...	Blood Sugar & Diabetes	Metabolic	Emerging