Tag

Metabolic

73 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
rs10838738	MTCH2	Intronic GWAS obesity variant in MTCH2 — affects mitochondrial energy balance...	Appetite & Obesity	Metabolic	Moderate
rs10882283	RBP4 RBP4 rs10882283	5' UTR variant in RBP4 that influences expression of retinol binding protein ...	Fat Storage & Energy	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
rs10938397	GNPDA2	GIANT consortium GWAS obesity locus near GNPDA2	Appetite & Obesity	Metabolic	Strong
rs118204437	GALNS Arg386Cys	Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carri...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs104894008	GCK Gly261Arg (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Metabolic	Established
rs119103258	PYGM	Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs1800591	MTTP MTTP -493G/T	Promoter-region variant in MTTP that reduces hepatic MTTP transcription; the ...	Liver Fat	Metabolic	Moderate
rs11152221	MC4R MC4R Proximal LD Block Variant	Intergenic variant in the proximal 3' regulatory block near MC4R associated w...	Appetite & Obesity	Metabolic	Strong
rs121434280	ACADM ACADM Y67H	Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitiv...	Metabolic Enzymes & Rare Disorders	Metabolic	Strong
rs150090666	PDE3B PDE3B R783X	Loss-of-function variant in phosphodiesterase 3B — carriers have enhanced cAM...	Triglycerides & Fatty Acids	Metabolic	Strong
rs10811661	CDKN2B	Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al...	Blood Sugar & Diabetes	Metabolic	Strong
rs121434281	ACADM S245L	Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medi...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs12970134	MC4R MC4R region variant	Near-gene variant ~188kb downstream of MC4R associated with increased waist c...	Appetite & Obesity	Metabolic	Strong
rs1420318	FTO	FTO intron 8 variant associated with nominal spine bone mineral density effec...	Fitness & Body	Metabolic	Emerging
rs2972164	PPARG	Intronic PPARG variant associated with rate of change in insulin sensitivity ...	Liver Fat	Metabolic	Moderate
rs10885122	ADRA2A ADRA2A Beta-Cell cAMP Variant	Intergenic variant near ADRA2A	Blood Sugar & Diabetes	Metabolic	Moderate
rs121434369	GCDH R402W (Arg402Trp)	Most common European allele for glutaric acidemia type 1; complete loss of GC...	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
rs17782313	MC4R Near-gene C>T	Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me...	Appetite & Obesity	Metabolic	Strong
rs1943226	MC4R MC4R third tagSNP	Upstream regulatory tag variant ~3 kb proximal to MC4R, included in MC4R hapl...	Appetite & Obesity	Metabolic	Emerging
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
rs2229616	MC4R V103I	Missense variant in MC4R converting valine to isoleucine at position 103; the...	Appetite & Obesity	Metabolic	Strong
rs563694	ABCB11 G6PC2/ABCB11 fasting glucose locus	Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula...	Liver Fat	Metabolic	Strong
rs58542926	TM6SF2 E167K	Lipid transport variant that impairs VLDL secretion, creating a paradoxical t...	Liver Fat	Metabolic	Strong
rs1799958	ACADS G209S (c.625G>A)	Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase;...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs1800592	UCP1 A-3826G	Promoter variant reducing UCP1 expression in brown adipose tissue, impairing ...	Fat Storage & Energy	Metabolic	Moderate
rs1801175	G6PC1	Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 caus...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs29941	KCTD15	GWAS obesity locus near KCTD15	Appetite & Obesity	Metabolic	Moderate
rs182052	ADIPOQ ADIPOQ promoter -10066A>G	Intronic/promoter-region ADIPOQ variant where the A allele reduces circulatin...	Fat Storage & Energy	Metabolic	Strong
rs6837293	PRKG2	Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele wa...	Uric Acid & Kidney Function	Metabolic	Emerging
rs12243326	TCF7L2 TCF7L2 Incretin Response Depth Variant	Intronic TCF7L2 depth variant replicated across multiple populations as a sec...	Blood Sugar & Diabetes	Metabolic	Moderate
rs369296618	MMAB	Nonsense variant in MMAB creating a premature stop codon (Q234*) that impairs...	Vitamins & Nutrient Absorption	Metabolic	Established
rs476828	MC4R MC4R-region BMI variant	Intergenic variant in the MC4R regulatory haplotype block, tagging the same a...	Appetite & Obesity	Metabolic	Strong
rs4788102	SH2B1 SH2B1/APOBR locus variant	Intronic variant at the SH2B1 locus on chromosome 16p11.2 — a key adaptor pro...	Appetite & Obesity	Metabolic	Strong
rs12610022	INSR	Intronic INSR variant that may alter insulin receptor expression or isoform b...	Blood Sugar & Diabetes	Metabolic	Emerging
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs489693	MC4R MC4R AIWG variant	Intergenic variant near MC4R with genome-wide significant association with an...	Appetite & Obesity	Metabolic	Strong
rs6259	SHBG Asp356Asn	Missense variant in SHBG exon 8 (p.Asp356Asn, historically Asp327Asn in matur...	Reproductive Hormones	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
rs370793608	ALDOB ALDOB Y204X	Nonsense variant in the aldolase B gene creating a premature stop codon at po...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs3734254	PPARD T+294C	PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the...	Fat Storage & Energy	Metabolic	Moderate
rs3745012	LPIN2 LPIN2 3'UTR variant	3' UTR regulatory variant in LPIN2 (lipin 2) that alters fat distribution and...	Fat Storage & Energy	Metabolic	Moderate
rs397507173	BTD	Rare missense variant in the biotinidase enzyme (p.Pro167Ser); a likely patho...	Vitamins & Nutrient Absorption	Metabolic	Established
rs3774261	ADIPOQ ADIPOQ rs3774261	Intronic ADIPOQ variant that reduces circulating adiponectin levels in G alle...	Fat Storage & Energy	Metabolic	Moderate
rs1799999	PPP1R3A Asp905Tyr	Missense variant in the skeletal muscle glycogen-targeting subunit of protein...	Blood Sugar & Diabetes	Metabolic	Moderate
rs3816873	MTTP MTTP I128T	Missense variant in MTTP (microsomal triglyceride transfer protein) at residu...	Fat Storage & Energy	Metabolic	Moderate
rs72552272	SLC7A7 L334R	Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lys...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs1800961	HNF4A Thr130Ile	Missense variant in HNF4A causing hepatocyte-specific loss of transcriptional...	Blood Sugar & Diabetes	Metabolic	Moderate
rs74315294	CPT2 p.Ser113Leu (S113L)	Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs1801278	IRS1 Gly972Arg (G972R)	Missense variant in insulin receptor substrate 1 that impairs tyrosine phosph...	Blood Sugar & Diabetes	Metabolic	Strong
rs2197076	FABP1	Intronic FABP1 variant associated with type 2 diabetes risk and insulin resis...	Triglycerides & Fatty Acids	Metabolic	Moderate
rs7647305	ETV5	GWAS obesity locus near ETV5	Appetite & Obesity	Metabolic	Moderate
rs767870	ADIPOR2 ADIPOR2 intron 6 variant	Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced ...	Fat Storage & Energy	Metabolic	Moderate
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Metabolic	Established
rs4235308	PPARGC1A	Intronic variant in the PGC-1alpha gene linked to population-specific type 2 ...	Fitness & Body	Metabolic	Emerging
rs8087522	MC4R MC4R A/G (rs8087522)	Upstream regulatory variant near MC4R that may create a transcription factor ...	Appetite & Obesity	Metabolic	Emerging
rs2233580	PAX4 Arg192His	Missense variant that impairs PAX4's ability to repress insulin and glucagon ...	Blood Sugar & Diabetes	Metabolic	Strong
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
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
rs391300	SRR SRR rs391300	Intronic variant in serine racemase that alters D-serine production in pancre...	Blood Sugar & Diabetes	Metabolic	Moderate
rs5956	CD36	Synonymous coding variant in CD36 fatty acid translocase; the minor A allele ...	Triglycerides & Fatty Acids	Metabolic	Emerging
rs5210	KCNJ11 KCNJ11 Kir6.2 Co-Variant	A regulatory 3' UTR variant in KCNJ11 that modulates KATP channel expression ...	Blood Sugar & Diabetes	Metabolic	Moderate
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