Tag

Lipid Metabolism

54 genetic variants with this tag.

RSID	Gene	Description	Category
rs1044317	ABCG1 ABCG1 3'UTR variant	3'UTR variant in ABCG1 that may reduce transporter expression, impairing chol...	Cholesterol & Lipoproteins	Lipid Metabolism	Moderate
rs1148259	ANKRD30A	Synonymous variant in the 3′ UTR of ANKRD30A associated with altered circulat...	Metabolic Enzymes & Rare Disorders	Lipid Metabolism	Emerging
rs12487736	SCAP SCAP Val798Ile	Missense variant in the SCAP cholesterol-sensor gene (Val798Ile); the C allel...	Atherogenic Lipoproteins	Lipid Metabolism	Moderate
rs12678919	LPL	Intergenic variant 19 kb downstream of lipoprotein lipase (LPL) that tags a r...	Triglycerides & Fatty Acids	Lipid Metabolism	Strong
rs137853964	LDLR Val827Ile / Val827Phe	LDLR missense variant at position 827 within the cytoplasmic NPXY internaliza...	Atherogenic Lipoproteins	Lipid Metabolism	Moderate
rs11568822	APOC1 APOC1 HCR-1 promoter variant	Promoter insertion variant in APOC1 that increases gene transcription by 50%,...	Cholesterol & Lipoproteins	Lipid Metabolism	Moderate
rs13236689	CD36	Intronic CD36 variant that acts as a platelet eQTL, modulating CD36 surface e...	Triglycerides & Fatty Acids	Lipid Metabolism	Moderate
rs1378577	ABCG1 ABCG1 ischemic stroke variant	Regulatory variant ~2kb upstream of ABCG1 that modulates transporter expressi...	Atherogenic Lipoproteins	Lipid Metabolism	Moderate
rs10889160	CYP2J2	Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with reduc...	Vascular Inflammation & Remodeling	Lipid Metabolism	Moderate
rs1800588	LIPC -514C>T	Promoter variant that reduces hepatic lipase activity, raising HDL-C levels b...	Atherogenic Lipoproteins	Lipid Metabolism	Strong
rs1800591	MTTP MTTP -493G/T	Promoter-region variant in MTTP that reduces hepatic MTTP transcription; the ...	Liver Fat	Lipid Metabolism	Moderate
rs12740374	SORT1 1p13.3 locus	Regulatory variant that increases sortilin expression, lowering LDL cholester...	Coronary Artery Disease & Atherosclerosis	Lipid Metabolism	Established
rs150090666	PDE3B PDE3B R783X	Loss-of-function variant in phosphodiesterase 3B — carriers have enhanced cAM...	Triglycerides & Fatty Acids	Lipid Metabolism	Strong
rs199673455	GPD1	Pathogenic missense variant in glycerol-3-phosphate dehydrogenase 1; homozygo...	Liver Fat	Lipid Metabolism	Strong
rs121918385	APOB APOB Glu4034fs	Frameshift deletion in APOB that truncates apolipoprotein B, causing familial...	Cholesterol & Lipoproteins	Lipid Metabolism	Strong
rs2972164	PPARG	Intronic PPARG variant associated with rate of change in insulin sensitivity ...	Liver Fat	Lipid Metabolism	Moderate
rs4149338	ABCA1 ABCA1 3'UTR Stroke-Associated Variant	3'UTR variant in the ATP-binding cassette transporter A1 gene; the G allele (...	Atherogenic Lipoproteins	Lipid Metabolism	Emerging
rs113809142	ABCA7 ABCA7 splice donor variant (c.4416+2T>G)	Rare splice donor variant in ABCA7 that disrupts mRNA processing, causing hap...	Neurology & Cognition	Lipid Metabolism	Strong
rs137853096	HSD17B4 Gly16Ser	Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting...	Metabolic Enzymes & Rare Disorders	Lipid Metabolism	Established
rs4225	APOC3 APOC3 3'UTR c.*71G>T	3'UTR variant that creates a microRNA-4271 binding site; the T allele suppres...	Atherogenic Lipoproteins	Lipid Metabolism	Moderate
rs4253623	PPARA	Intronic PPARA variant whose minor G allele has been associated with modest m...	Atherogenic Lipoproteins	Lipid Metabolism	Emerging
rs505151	PCSK9 E670G	Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL c...	Atherogenic Lipoproteins	Lipid Metabolism	Moderate
rs11868035	SREBF1	SREBF1 intronic/3'UTR variant affecting SREBP-1c expression, associated with ...	Fat Storage & Energy	Lipid Metabolism	Moderate
rs613084	CPT1A CPT1A carnitine shuttle variant	Intronic variant that influences CPT1A expression and fatty acid oxidation ca...	Liver Fat	Lipid Metabolism	Moderate
rs5177	LRP8 LRP8 3'UTR variant	3'UTR variant in LRP8 (ApoER2) that affects mRNA stability and forms part of ...	Atherogenic Lipoproteins	Lipid Metabolism	Moderate
rs1457043	CYP7A1	Intronic variant in CYP7A1 that tags a haplotype block influencing cholestero...	Cholesterol & Lipoproteins	Lipid Metabolism	Moderate
rs1800775	CETP -629C>A	CETP promoter variant that reduces CETP expression via Sp1/Sp3 repression, ra...	Cholesterol & Lipoproteins	Lipid Metabolism	Strong
rs6008845	PPARA PPARA intronic C/T	Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience...	Atherogenic Lipoproteins	Lipid Metabolism	Strong
rs185392267	PCSK9 Arg96Cys	Gain-of-function missense variant in PCSK9 that increases intracellular LDL r...	Cholesterol & Lipoproteins	Lipid Metabolism	Strong
rs2298566	SNX19	Missense variant in sorting nexin 19 that alters endolysosomal positioning at...	Coronary Artery Disease & Atherosclerosis	Lipid Metabolism	Moderate
rs2228314	SREBF2 SREBF2 G1784C	Missense variant in the master cholesterol transcription factor SREBP-2 that ...	Cholesterol & Lipoproteins	Lipid Metabolism	Moderate
rs17482753	LPL LPL G>T (Intergenic Variant)	Intergenic variant near the lipoprotein lipase gene on 8p21.3 with an indepen...	Triglycerides & Fatty Acids	Lipid Metabolism	Moderate
rs2234714	ABCG1 ABCG1 promoter variant	Intronic ABCG1 variant near the promoter region; homozygous carriers of the m...	Cholesterol & Lipoproteins	Lipid Metabolism	Emerging
rs688	LDLR Asn591Asn (c.1773C>T)	Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor ...	Atherogenic Lipoproteins	Lipid Metabolism	Strong
rs2072114	FADS2 FADS2 Intron 1 Variant	Intronic FADS2 haplotype tag SNP — the G allele is linked to altered delta-6 ...	Triglycerides & Fatty Acids	Lipid Metabolism	Moderate
rs519664	TTC39B TTC39B rs519664	Intronic variant in TTC39B (9p22) that increases endometriosis susceptibility...	Endometriosis & Uterine Health	Lipid Metabolism	Strong
rs2197076	FABP1	Intronic FABP1 variant associated with type 2 diabetes risk and insulin resis...	Triglycerides & Fatty Acids	Lipid Metabolism	Moderate
rs3846662	HMGCR HMGCR Intron 13 Splice Variant	Intronic HMGCR variant that modulates alternative splicing of exon 13, produc...	Cholesterol & Lipoproteins	Lipid Metabolism	Moderate
rs2236212	ELOVL2	Intronic variant in ELOVL2 that reduces elongase-2 enzyme activity, impairing...	Triglycerides & Fatty Acids	Lipid Metabolism	Moderate
rs2297508	SREBF1 SREBF1 G952G	SREBF1 3' UTR variant that subtly impairs SREBP-1c function, increasing risk ...	Fat Storage & Energy	Lipid Metabolism	Moderate
rs4900442	CYP46A1	Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele assoc...	Cholesterol & Lipoproteins	Lipid Metabolism	Moderate
rs3211867	CD36	Intronic CD36 variant that reduces CD36 expression, impairing postprandial fa...	Triglycerides & Fatty Acids	Lipid Metabolism	Moderate
rs71785313	APOL1 G2 (del388N389Y)	Six-base-pair in-frame deletion removing two amino acids from apolipoprotein ...	Cholesterol & Lipoproteins	Lipid Metabolism	Established
rs3211883	CD36	Intronic CD36 variant associated with altered body adiposity and platelet CD3...	Triglycerides & Fatty Acids	Lipid Metabolism	Moderate
rs3212018	CD36	A 16-bp deletion in the 3' untranslated region of CD36 that may reduce mRNA s...	Triglycerides & Fatty Acids	Lipid Metabolism	Emerging
rs35136575	APOC1P1 HCR-2 Enhancer Variant	Regulatory variant in the APOE/APOC hepatic enhancer HCR-2 that lowers plasma...	Triglycerides & Fatty Acids	Lipid Metabolism	Strong
rs8192870	CYP7A1 CYP7A1 intron 1 variant	Intronic variant in the rate-limiting bile acid synthesis gene; T allele carr...	Cholesterol & Lipoproteins	Lipid Metabolism	Moderate
rs3734398	ELOVL2	3' UTR variant in the ELOVL2 elongase gene that reduces DHA synthesis from it...	Triglycerides & Fatty Acids	Lipid Metabolism	Strong
rs3816873	MTTP MTTP I128T	Missense variant in MTTP (microsomal triglyceride transfer protein) at residu...	Fat Storage & Energy	Lipid Metabolism	Moderate
rs3856806	PPARG His477His (C1431T)	Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and ...	Fat Storage & Energy	Lipid Metabolism	Strong
rs5882	CETP I405V	Missense variant that reduces CETP enzyme activity, raising HDL-C and enlargi...	Longevity & Aging	Lipid Metabolism	Moderate
rs5181	LRP8 Trp466Cys	Rare missense variant in the ApoE receptor 2 (LRP8) ligand-binding domain, di...	Fat Storage & Energy	Lipid Metabolism	Emerging
rs4939883	LOC105372112	Intronic variant near LIPG whose T allele increases circulating endothelial l...	Triglycerides & Fatty Acids	Lipid Metabolism	Strong
rs953413	ELOVL2	Intronic enhancer variant in ELOVL2 that controls transcription factor bindin...	Triglycerides & Fatty Acids	Lipid Metabolism	Strong