Tag

Fat Metabolism

129 genetic variants with this tag.

RSID	Gene	Description	Category
rs10150332	NRXN3	Obesity and waist circumference GWAS hit in NRXN3 — links reward-circuit syna...	Appetite & Obesity	Fat Metabolism	Strong
rs1044250	ANGPTL4 T266M	Protective missense variant that reduces LPL inhibition, lowering fasting tri...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs1044471	ADIPOR2 ADIPOR2 3'UTR variant	A common 3'UTR variant in the liver-expressed adiponectin receptor 2 gene; th...	Fat Storage & Energy	Fat Metabolism	Moderate
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Fat Metabolism	Strong
rs10195252	GRB14/COBLL1	Intergenic variant between GRB14 and COBLL1 that acts as an eQTL for GRB14 in...	Blood Sugar & Diabetes	Fat Metabolism	Strong
rs1053049	PPARD 3'UTR variant	3'UTR variant in PPARD that acts as the third tag in the elite athlete haplot...	Fitness & Body	Fat Metabolism	Moderate
rs1058322	ADIPOR2	Intronic ADIPOR2 variant whose T allele reduces receptor expression in immune...	Fat Storage & Energy	Fat Metabolism	Moderate
rs11057830	SCARB1	Intronic variant in SCARB1 that affects SR-BI receptor function and the intes...	Cholesterol & Lipoproteins	Fat Metabolism	Moderate
rs113994167	ACADVL p.Val283Ala (V283A)	Most common VLCAD deficiency variant in the US, causing mild late-onset disea...	Metabolic Enzymes & Rare Disorders	Fat Metabolism	Established
rs116843064	ANGPTL4 ANGPTL4 E40K	Missense variant that reduces ANGPTL4's inhibition of lipoprotein lipase, low...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs118204017	ACADVL	ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ...	Liver Fat	Fat Metabolism	Strong
rs10838738	MTCH2	Intronic GWAS obesity variant in MTCH2 — affects mitochondrial energy balance...	Appetite & Obesity	Fat Metabolism	Moderate
rs11057841	SCARB1	Intronic variant in SCARB1 that tags a haplotype affecting SR-BI receptor-med...	Cholesterol & Lipoproteins	Fat Metabolism	Moderate
rs12593008	LIPC	Intronic LIPC variant in intron 1 associated with low HDL risk, predominantly...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs1260326	GCKR P446L	Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fr...	Liver Fat	Fat Metabolism	Strong
rs10938397	GNPDA2	GIANT consortium GWAS obesity locus near GNPDA2	Appetite & Obesity	Fat Metabolism	Strong
rs11061946	ADIPOR2	Intronic variant in the adiponectin receptor 2 gene; rare homozygotes showed ...	Fat Storage & Energy	Fat Metabolism	Emerging
rs1108086	FTO FTO Intron 8 T>C	An FTO intron-8 variant in the same haplotype block as rs1420318, with emergi...	Fitness & Body	Fat Metabolism	Emerging
rs12678919	LPL	Intergenic variant 19 kb downstream of lipoprotein lipase (LPL) that tags a r...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs1776897	HMGA1	Chromatin remodeling variant near HMGA1 associated with waist-to-hip ratio an...	Liver Fat	Fat Metabolism	Moderate
rs121918383	APOB APOB Arg1333Ter	Nonsense mutation in APOB creating a premature stop codon at position 1333, t...	Cholesterol & Lipoproteins	Fat Metabolism	Strong
rs13702	LPL	LPL 3'UTR variant disrupting a microRNA-410 binding site; the C allele abolis...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs1800591	MTTP MTTP -493G/T	Promoter-region variant in MTTP that reduces hepatic MTTP transcription; the ...	Liver Fat	Fat Metabolism	Moderate
rs121434280	ACADM ACADM Y67H	Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitiv...	Metabolic Enzymes & Rare Disorders	Fat Metabolism	Strong
rs121918389	APOB Q1477X (apoB-32)	Nonsense mutation producing a severely truncated apolipoprotein B (apoB-32) t...	Cholesterol & Lipoproteins	Fat Metabolism	Strong
rs1800588	LIPC -514C>T	Promoter variant that reduces hepatic lipase activity, raising HDL-C levels b...	Atherogenic Lipoproteins	Fat Metabolism	Strong
rs2642438	MTARC1 p.Ala165Thr (A165T)	Protective missense variant that reduces MTARC1 protein stability, cutting he...	Liver Fat	Fat Metabolism	Established
rs11555236	SIRT3	Intronic regulatory variant near the SIRT3 VNTR enhancer — the A allele incre...	Longevity & Aging	Fat Metabolism	Moderate
rs121434281	ACADM S245L	Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medi...	Metabolic Enzymes & Rare Disorders	Fat Metabolism	Established
rs12713559	APOB APOB R3558C	Rare APOB missense variant reducing LDL-receptor binding affinity by ~40-50%,...	Cholesterol & Lipoproteins	Fat Metabolism	Moderate
rs1420318	FTO	FTO intron 8 variant associated with nominal spine bone mineral density effec...	Fitness & Body	Fat Metabolism	Emerging
rs1532085	LIPC	Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels wh...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs2131925	ANGPTL3 DOCK7/ANGPTL3 Locus Tag SNP	Intronic tag SNP in the DOCK7/ANGPTL3 region; the T allele is associated with...	Atherogenic Lipoproteins	Fat Metabolism	Strong
rs2972164	PPARG	Intronic PPARG variant associated with rate of change in insulin sensitivity ...	Liver Fat	Fat Metabolism	Moderate
rs13412852	LPIN1	Intronic variant in LPIN1 (lipin-1) associated with liver fat accumulation an...	Fat Storage & Energy	Fat Metabolism	Emerging
rs1535	FADS2	Intronic FADS2 variant with stronger independent associations than rs174575 f...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs4240624	PPP1R3B Near-gene variant	Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevat...	Liver Fat	Fat Metabolism	Strong
rs12086634	HSD11B1 Intron 3 variant	Modulates local cortisol activation from cortisone in liver and adipose tissu...	Hormones & Sleep	Fat Metabolism	Moderate
rs16861194	ADIPOQ -11426A>G	Upstream promoter variant that reduces ADIPOQ transcription, lowering circula...	Fat Storage & Energy	Fat Metabolism	Moderate
rs17321515	TRIB1	Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs1800775	CETP -629C>A	CETP promoter variant that reduces CETP expression via Sp1/Sp3 repression, ra...	Cholesterol & Lipoproteins	Fat Metabolism	Strong
rs4149338	ABCA1 ABCA1 3'UTR Stroke-Associated Variant	3'UTR variant in the ATP-binding cassette transporter A1 gene; the G allele (...	Atherogenic Lipoproteins	Fat Metabolism	Emerging
rs4841132	PPP1R3B	Near-gene PPP1R3B variant used as primary tagging SNP in the Stender 2018 stu...	Liver Fat	Fat Metabolism	Strong
rs1501299	ADIPOQ +276G>T	Intronic variant in the adiponectin gene that influences circulating adiponec...	Coronary Artery Disease & Atherosclerosis	Fat Metabolism	Moderate
rs16861205	ADIPOQ	Intronic ADIPOQ variant in LD with the promoter region; the minor A allele is...	Fat Storage & Energy	Fat Metabolism	Moderate
rs174535	MYRF	Missense variant in the MYRF/FADS gene cluster region on chromosome 11 associ...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs4225	APOC3 APOC3 3'UTR c.*71G>T	3'UTR variant that creates a microRNA-4271 binding site; the T allele suppres...	Atherogenic Lipoproteins	Fat Metabolism	Moderate
rs563694	ABCB11 G6PC2/ABCB11 fasting glucose locus	Intronic variant in ABCB11 in strong linkage disequilibrium with G6PC2 regula...	Liver Fat	Fat Metabolism	Strong
rs16928751	ADIPOR2 ADIPOR2 CVD co-association variant	Synonymous coding variant in ADIPOR2 (Q265Q) that was co-associated with card...	Fat Storage & Energy	Fat Metabolism	Emerging
rs174537	FADS1	Regulatory variant in the FADS1 locus that controls delta-5 desaturase expres...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs4253623	PPARA	Intronic PPARA variant whose minor G allele has been associated with modest m...	Atherogenic Lipoproteins	Fat Metabolism	Emerging
rs174541	FADS1 FADS1 C>G (delta-5 desaturase depth)	Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expressi...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs1799958	ACADS G209S (c.625G>A)	Common missense variant in ACADS encoding short-chain acyl-CoA dehydrogenase;...	Metabolic Enzymes & Rare Disorders	Fat Metabolism	Established
rs2249891	ABCA1	Intronic ABCA1 variant associated with lower HDL-cholesterol susceptibility a...	Cholesterol & Lipoproteins	Fat Metabolism	Moderate
rs2867125	TMEM18 TMEM18 regulatory variant (2p25.3)	Regulatory variant at the TMEM18 locus on chromosome 2p25.3 — one of the most...	Appetite & Obesity	Fat Metabolism	Strong
rs641738	MBOAT7	Regulatory variant that reduces MBOAT7 expression in the liver, impairing pho...	Liver Fat	Fat Metabolism	Strong
rs174546	FADS1	3'UTR regulatory variant in FADS1 that disrupts a miR-149-5p binding site, re...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs1800592	UCP1 A-3826G	Promoter variant reducing UCP1 expression in brown adipose tissue, impairing ...	Fat Storage & Energy	Fat Metabolism	Moderate
rs2575876	ABCA1	Intronic ABCA1 variant associated with HDL-C levels under a recessive model; ...	Cholesterol & Lipoproteins	Fat Metabolism	Moderate
rs29941	KCTD15	GWAS obesity locus near KCTD15	Appetite & Obesity	Fat Metabolism	Moderate
rs6536991	UCP1	Intronic UCP1 variant — the C allele is associated with reduced overweight ri...	Liver Fat	Fat Metabolism	Emerging
rs174547	FADS1	Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA fr...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs28942083	LDLR Cys667Tyr	Pathogenic LDLR missense variant abolishing LDL receptor surface expression, ...	Cholesterol & Lipoproteins	Fat Metabolism	Established
rs3827103	MC3R	Common MC3R missense variant that reduces receptor expression and shifts nutr...	Appetite & Obesity	Fat Metabolism	Moderate
rs6834314	HSD17B13	Intergenic tag SNP in near-perfect linkage disequilibrium with the HSD17B13 s...	Liver Fat	Fat Metabolism	Moderate
rs174553	FADS1	Intronic variant in the FADS1 gene cluster that reduces delta-5 desaturase ac...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs2304795	PLIN1	Synonymous exon 8 variant in perilipin 1 that tags a haplotype associated wit...	Fat Storage & Energy	Fat Metabolism	Moderate
rs4149268	ABCA1	Intronic ABCA1 variant — T-allele homozygotes show modestly lower HDL	Cholesterol & Lipoproteins	Fat Metabolism	Moderate
rs12255372	TCF7L2	Second TCF7L2 diabetes variant - compounds risk with rs7903146	Blood Sugar & Diabetes	Fat Metabolism	Strong
rs174561	FADS1	Intronic variant in the FADS1 gene cluster that tags a haplotype block contro...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs2651899	PRDM16	Intronic variant in the master regulator of brown/beige fat differentiation, ...	Fat Storage & Energy	Fat Metabolism	Moderate
rs4149274	ABCA1	Intronic ABCA1 variant influencing HDL-cholesterol levels; the A allele is as...	Cholesterol & Lipoproteins	Fat Metabolism	Moderate
rs4788102	SH2B1 SH2B1/APOBR locus variant	Intronic variant at the SH2B1 locus on chromosome 16p11.2 — a key adaptor pro...	Appetite & Obesity	Fat Metabolism	Strong
rs6008845	PPARA PPARA intronic C/T	Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience...	Atherogenic Lipoproteins	Fat Metabolism	Strong
rs780094	GCKR	Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260...	Liver Fat	Fat Metabolism	Strong
rs174568	FADS2 FADS2 C>T (delta-6 desaturase)	Intronic regulatory variant in FADS2 encoding delta-6 desaturase, the rate-li...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs429358	APOE E4 determinant	Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high sat...	Cholesterol & Lipoproteins	Fat Metabolism	Established
rs174572	FADS2	Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs243865	MMP2 C-1306T	Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enz...	Fitness & Body	Fat Metabolism	Moderate
rs2959272	PPARG PPARG intronic calorie-restriction trial variant	Intronic PPARG variant significantly associated with individual variation in ...	Fat Storage & Energy	Fat Metabolism	Emerging
rs4783961	CETP	CETP promoter variant that raises HDL cholesterol by reducing cholesteryl est...	Cholesterol & Lipoproteins	Fat Metabolism	Moderate
rs662799	APOA5 -1131T>C	Promoter variant that reduces APOA5 expression, impairing lipoprotein lipase ...	Atherogenic Lipoproteins	Fat Metabolism	Strong
rs174616	FADS2 FADS2 Haplotype Block Variant	Intronic FADS2 variant; A allele carriers have reduced delta-6 desaturase act...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs3734254	PPARD T+294C	PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the...	Fat Storage & Energy	Fat Metabolism	Moderate
rs17482753	LPL LPL G>T (Intergenic Variant)	Intergenic variant near the lipoprotein lipase gene on 8p21.3; the rare T all...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs520354	APOB APOB IVS6+360	Intronic APOB variant where the A allele (plus strand) is associated with app...	Cholesterol & Lipoproteins	Fat Metabolism	Moderate
rs6905288	VEGFA	Adipose tissue vascularization variant near VEGFA influencing fat distributio...	Vascular Inflammation & Remodeling	Fat Metabolism	Moderate
rs1799883	FABP2 Ala54Thr	Intestinal fat absorption - affects how efficiently you absorb dietary fat	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs377022708	ACAD9 Arg532Trp (R532W)	Pathogenic missense variant in the ACAD9 complex I assembly factor causing se...	Metabolic Enzymes & Rare Disorders	Fat Metabolism	Strong
rs3774261	ADIPOQ ADIPOQ rs3774261	Intronic ADIPOQ variant that reduces circulating adiponectin levels in G alle...	Fat Storage & Energy	Fat Metabolism	Moderate
rs6548238	TMEM18	Second strongest obesity GWAS locus after FTO	Appetite & Obesity	Fat Metabolism	Strong
rs1799999	PPP1R3A Asp905Tyr	Missense variant in the skeletal muscle glycogen-targeting subunit of protein...	Blood Sugar & Diabetes	Fat Metabolism	Moderate
rs2000813	LIPG	Missense variant in endothelial lipase that tags a regulatory haplotype assoc...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs3816873	MTTP MTTP I128T	Missense variant in MTTP (microsomal triglyceride transfer protein) at residu...	Fat Storage & Energy	Fat Metabolism	Moderate
rs696217	GHRL Leu72Met	Missense variant in the ghrelin prepropeptide that impairs postprandial ghrel...	Appetite & Obesity	Fat Metabolism	Moderate
rs2072114	FADS2 FADS2 Intron 1 Variant	Intronic FADS2 haplotype tag SNP — the G allele is linked to altered delta-6 ...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs74315294	CPT2 p.Ser113Leu (S113L)	Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase...	Metabolic Enzymes & Rare Disorders	Fat Metabolism	Established
rs7498665	SH2B1 Thr484Ala	Obesity GWAS missense variant in SH2B1 that impairs leptin signaling and incr...	Appetite & Obesity	Fat Metabolism	Strong
rs2197076	FABP1	Intronic FABP1 variant associated with type 2 diabetes risk and insulin resis...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs7412	APOE E2 determinant	APOE E2 variant - generally protective for cardiovascular health	Cholesterol & Lipoproteins	Fat Metabolism	Established
rs767870	ADIPOR2 ADIPOR2 intron 6 variant	Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced ...	Fat Storage & Energy	Fat Metabolism	Moderate
rs2197089	LPL LPL Regulatory Variant	Downstream regulatory variant affecting LPL expression and triglyceride clear...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs2542052	APOC3	Promoter variant that reduces APOC3 expression, associated with lower triglyc...	Longevity & Aging	Fat Metabolism	Strong
rs7799039	LEP G-2548A	Promoter variant that increases leptin gene expression in adipose tissue, ele...	Appetite & Obesity	Fat Metabolism	Moderate
rs838880	SCARB1	3' UTR variant in SCARB1, lowering HDL cholesterol and impairing reverse chol...	Cholesterol & Lipoproteins	Fat Metabolism	Strong
rs2278236	ANGPTL4 ANGPTL4 Intronic Variant	Intronic ANGPTL4 variant tagging reduced LPL inhibition; the A allele is asso...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs77931234	ACADM c.985A>G (p.Lys329Glu)	Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predispos...	Cardiomyopathy & Structural Heart	Fat Metabolism	Established
rs264	LPL LPL Intron 6 Variant	Intronic LPL variant associated with altered triglyceride clearance and HDL l...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs62623713	SYPL2 E99G	Low-frequency missense variant in SYPL2 associated with morbid obesity suscep...	Fitness & Body	Fat Metabolism	Emerging
rs987237	TFAP2B	Adipocyte transcription factor variant influencing central fat distribution a...	Appetite & Obesity	Fat Metabolism	Moderate
rs2727270	FADS2	Intronic regulatory variant in FADS2; T allele carriers have lower D5D and D6...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs6902123	PPARD	Intronic PPARD variant that independently impairs hepatic fat mobilization du...	Fitness & Body	Fat Metabolism	Moderate
rs2854116	APOC3 T-455C	APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs2854117	APOC3 APOC3 C-482T	Promoter variant in APOC3 disrupting insulin-responsive regulation of apolipo...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs2919872	FABP1 FABP1 Promoter Variant	Promoter variant 2 kb upstream of FABP1 (liver fatty acid binding protein) th...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs8192678	PPARGC1A Gly482Ser	Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha...	Fitness & Body	Fat Metabolism	Strong
rs3211867	CD36	Intronic CD36 variant that reduces CD36 expression, with effects on circulati...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs7664413	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene associat...	Innate Immunity & Infection Defense	Fat Metabolism	Emerging
rs4148102	ABCG1 ABCG1 intronic PUFA-interaction variant	Intronic variant in the ABCG1 cholesterol efflux transporter gene that modifi...	Triglycerides & Fatty Acids	Fat Metabolism	Emerging
rs4775065	LIPC	Intronic LIPC variant associated with susceptibility to low HDL-C and coronar...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs4783244	CDH13	Intronic CDH13 variant altering T-cadherin expression; T allele carriers have...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs4939883	LOC105372112	Intronic variant near LIPG whose T allele increases circulating endothelial l...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs5082	APOA2 -265T>C	Promoter variant that reduces APOA2 expression by 30%; GG homozygotes consumi...	Triglycerides & Fatty Acids	Fat Metabolism	Strong
rs5956	CD36	Synonymous coding variant in CD36 fatty acid translocase; the minor A allele ...	Triglycerides & Fatty Acids	Fat Metabolism	Emerging
rs692383	ABCG1 ABCG1 HDL-c Variant	Intronic variant in the ABCG1 cholesterol efflux transporter gene associated ...	Triglycerides & Fatty Acids	Fat Metabolism	Emerging
rs968567	FADS2 FADS2 Promoter D6D Activity Variant	Promoter variant in FADS2 that increases delta-6 desaturase (D6D) expression ...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs9951026	LIPG	Intronic LIPG variant that tags a haplotype associated with higher LDL choles...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs99780	FADS2	Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase ac...	Triglycerides & Fatty Acids	Fat Metabolism	Moderate
rs7903146	TCF7L2	Main type 2 diabetes risk variant - strongly modulated by dietary fat	Blood Sugar & Diabetes	Fat Metabolism	Established