Tag

Cholesterol

120 genetic variants with this tag.

RSID	Gene	Description	Category
rs1044250	ANGPTL4 T266M	Protective missense variant that reduces LPL inhibition, lowering fasting tri...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs1044317	ABCG1 ABCG1 3'UTR variant	3'UTR variant in ABCG1 that may reduce transporter expression, impairing chol...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs10455872	LPA	Intronic variant strongly associated with elevated lipoprotein(a) levels and ...	Atherogenic Lipoproteins	Cholesterol	Established
rs10846744	SCARB1	Intronic SCARB1 variant associated with altered HDL-receptor function, subcli...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs11591147	PCSK9 R46L	Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and ...	Atherogenic Lipoproteins	Cholesterol	Established
rs116843064	ANGPTL4 ANGPTL4 E40K	Missense variant that reduces ANGPTL4's inhibition of lipoprotein lipase, low...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs1148259	ANKRD30A	Synonymous variant in the 3′ UTR of ANKRD30A associated with altered circulat...	Metabolic Enzymes & Rare Disorders	Cholesterol	Emerging
rs11857380	LIPC	Intronic LIPC variant tagging reduced hepatic lipase expression; G allele ass...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs12487736	SCAP SCAP Val798Ile	Missense variant in the SCAP cholesterol-sensor gene (Val798Ile); the C allel...	Atherogenic Lipoproteins	Cholesterol	Moderate
rs10515522	NR3C1	Intronic NR3C1 variant associated with longevity in Polish nonagenarians and ...	Longevity & Aging	Cholesterol	Emerging
rs12593008	LIPC	Intronic LIPC variant in intron 1 associated with low HDL risk, predominantly...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs12785878	DHCR7 Near gene T>G	Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is...	Vitamin D Metabolism	Cholesterol	Strong
rs137852912	PCSK9 D374Y	The most severe gain-of-function PCSK9 mutation, increasing LDLR-binding affi...	Atherogenic Lipoproteins	Cholesterol	Established
rs1125226	CYP7A1 CYP7A1 upstream promoter variant	Upstream regulatory variant in CYP7A1 that tags haplotypes affecting bile aci...	Cholesterol & Lipoproteins	Cholesterol	Emerging
rs137853964	LDLR Val827Ile / Val827Phe	LDLR missense variant at position 827 within the cytoplasmic NPXY internaliza...	Atherogenic Lipoproteins	Cholesterol	Moderate
rs11568822	APOC1 APOC1 HCR-1 promoter variant	Promoter insertion variant in APOC1 that increases gene transcription by 50%,...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs1378577	ABCG1 ABCG1 ischemic stroke variant	Regulatory variant ~2kb upstream of ABCG1 that modulates transporter expressi...	Atherogenic Lipoproteins	Cholesterol	Moderate
rs1800588	LIPC -514C>T	Promoter variant that reduces hepatic lipase activity, raising HDL-C levels b...	Atherogenic Lipoproteins	Cholesterol	Strong
rs121918383	APOB APOB Arg1333Ter	Nonsense mutation in APOB creating a premature stop codon at position 1333, t...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs12740374	SORT1 1p13.3 locus	Regulatory variant that increases sortilin expression, lowering LDL cholester...	Coronary Artery Disease & Atherosclerosis	Cholesterol	Established
rs121918384	APOB APOB Val1856fs	Frameshift deletion in APOB causing truncated apolipoprotein B-100, reducing ...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs121918393	APOE Christchurch (R136S)	Ultra-rare APOE3 missense variant that dramatically reduces HSPG binding and ...	Longevity & Aging	Cholesterol	Strong
rs1532085	LIPC	Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels wh...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs186021206	ASGR1	Intergenic tag SNP 7.3 kb downstream of ASGR1; the rare A allele proxies the ...	Atherogenic Lipoproteins	Cholesterol	Strong
rs2228603	NCAN T130M (Pro92Ser)	Missense variant in neurocan associated with hepatic steatosis, liver inflamm...	Liver Fat	Cholesterol	Moderate
rs121918385	APOB APOB Glu4034fs	Frameshift deletion in APOB that truncates apolipoprotein B, causing familial...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs121918386	APOB APOB Arg2085Ter	Nonsense mutation in APOB creating a premature stop codon at position 2085, p...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs1333049	CDKN2B-AS1 9p21 locus	Strongest GWAS signal for coronary artery disease; risk C allele accelerates ...	Coronary Artery Disease & Atherosclerosis	Cholesterol	Established
rs17301739	LIPC	Intronic LIPC variant associated with circulating DHA and omega-3 fatty acid ...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs2642438	MTARC1 p.Ala165Thr (A165T)	Protective missense variant that reduces MTARC1 protein stability, cutting he...	Liver Fat	Cholesterol	Established
rs28942111	PCSK9 S127R	Gain-of-function PCSK9 missense variant (Ser127Arg) causing autosomal dominan...	Atherogenic Lipoproteins	Cholesterol	Established
rs121918387	APOB ApoB-67 frameshift	Single-nucleotide deletion in APOB creating a truncated apolipoprotein B (Apo...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs17321515	TRIB1	Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs3798220	LPA Ile4399Met (I4399M)	Missense variant in the protease-like domain of apolipoprotein(a) causing mar...	Atherogenic Lipoproteins	Cholesterol	Strong
rs121918388	APOB APOB Q2279X	Nonsense variant creating a premature stop codon at amino acid 2279 of apolip...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs3829251	NADSYN1	Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was t...	Vitamin D Metabolism	Cholesterol	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	Cholesterol	Emerging
rs121918389	APOB Q1477X (apoB-32)	Nonsense mutation producing a severely truncated apolipoprotein B (apoB-32) t...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs121918390	APOB APOB R2522X	Nonsense mutation truncating apolipoprotein B at residue 2522, causing famili...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs121918391	APOB APOB Tyr1200Ter	Rare APOB stop-gain variant that truncates apolipoprotein B to ~27% of its fu...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs505151	PCSK9 E670G	Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL c...	Atherogenic Lipoproteins	Cholesterol	Moderate
rs12447924	CETP	Upstream promoter variant in CETP that tags the HDL-raising haplotype block —...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs5128	APOC3 3238C>G (SstI)	Regulates triglyceride metabolism through effects on APOC3 expression in the ...	Atherogenic Lipoproteins	Cholesterol	Strong
rs58542926	TM6SF2 E167K	Lipid transport variant that impairs VLDL secretion, creating a paradoxical t...	Liver Fat	Cholesterol	Strong
rs12686004	ABCA1	Intronic ABCA1 variant associated with population differences in HDL choleste...	Cholesterol & Lipoproteins	Cholesterol	Emerging
rs12713559	APOB APOB R3558C	Rare APOB missense variant reducing LDL-receptor binding affinity by ~40-50%,...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs137943601	LDLR LDLR E408* (Glu408Ter)	Nonsense mutation in the LDLR gene creating a premature stop codon at positio...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs20455	KIF6 Trp719Arg	Missense variant in kinesin family member 6; the Arg allele was associated wi...	Coronary Artery Disease & Atherosclerosis	Cholesterol	Moderate
rs55714927	ASGR1 ASGR1 K89K	Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen...	Atherogenic Lipoproteins	Cholesterol	Strong
rs7940244	NADSYN1 Near DHCR7	Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags ...	Vitamin D Metabolism	Cholesterol	Strong
rs1457043	CYP7A1	Intronic variant in CYP7A1 that tags a haplotype block influencing cholestero...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs5925	LDLR LDLR Expression Co-variant	Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in...	Atherogenic Lipoproteins	Cholesterol	Moderate
rs7944926	DHCR7	Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that t...	Vitamin D Metabolism	Cholesterol	Strong
rs1800206	PPARA Leu162Val (L162V)	Missense variant in PPARA that reduces receptor transcriptional activity, ele...	Fitness & Body	Cholesterol	Moderate
rs1800775	CETP -629C>A	CETP promoter variant that reduces CETP expression via Sp1/Sp3 repression, ra...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs185392267	PCSK9 Arg96Cys	Gain-of-function missense variant in PCSK9 that increases intracellular LDL r...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs6511720	LDLR Intron 1	Common regulatory variant in the LDL receptor gene affecting LDLR expression,...	Atherogenic Lipoproteins	Cholesterol	Strong
rs2228314	SREBF2 SREBF2 G1784C	Missense variant in the master cholesterol transcription factor SREBP-2 that ...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs2234714	ABCG1 ABCG1 promoter variant	Intronic ABCG1 variant near the promoter region; homozygous carriers of the m...	Cholesterol & Lipoproteins	Cholesterol	Emerging
rs688	LDLR Asn591Asn (c.1773C>T)	Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor ...	Atherogenic Lipoproteins	Cholesterol	Strong
rs2249891	ABCA1	Intronic ABCA1 variant associated with lower HDL-cholesterol susceptibility a...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs693	APOB XbaI (C/T)	Silent variant affecting LDL particle number and lipid metabolism; A allele c...	Atherogenic Lipoproteins	Cholesterol	Strong
rs2575876	ABCA1	Intronic ABCA1 variant associated with HDL-C levels under a recessive model; ...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs708272	CETP TaqIB	Influences HDL cholesterol levels and particle size through effects on choles...	Atherogenic Lipoproteins	Cholesterol	Strong
rs2000813	LIPG	Missense variant in endothelial lipase that tags a regulatory haplotype assoc...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs2853579	ABCA1	Synonymous coding variant in ABCA1 that tags a regulatory element influencing...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs28942083	LDLR Cys667Tyr	Pathogenic LDLR missense variant abolishing LDL receptor surface expression, ...	Cholesterol & Lipoproteins	Cholesterol	Established
rs730882105	LDLR p.Val524Met	Rare LDLR missense variant (c.1570G>A, p.Val524Met) associated with familial ...	Atherogenic Lipoproteins	Cholesterol	Moderate
rs2073658	USF1 USF1 FCHL Variant	Intronic USF1 variant; the T allele disrupts insulin-responsive USF1 regulati...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs28942084	LDLR LDLR Pro685Leu	Pathogenic LDLR missense variant in the EGF precursor domain causing familial...	Cholesterol & Lipoproteins	Cholesterol	Established
rs763625913	LDLR Q770* (c.2308C>T)	Rare pathogenic nonsense variant in the LDL receptor gene that abolishes rece...	Atherogenic Lipoproteins	Cholesterol	Established
rs28942085	LDLR LDLR Y828C (J.D. mutation)	Pathogenic LDLR missense variant (p.Tyr828Cys) that traps LDL receptors outsi...	Cholesterol & Lipoproteins	Cholesterol	Established
rs2197089	LPL LPL Regulatory Variant	Downstream regulatory variant affecting LPL expression and triglyceride clear...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs3846662	HMGCR HMGCR Intron 13 Splice Variant	Intronic HMGCR variant that modulates alternative splicing of exon 13, produc...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs3846663	HMGCR HMGCR Exon 13 Haplotype Tag	Intronic HMGCR variant that tags a haplotype influencing exon 13 alternative ...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs2278236	ANGPTL4 ANGPTL4 Intronic Variant	Intronic ANGPTL4 variant tagging reduced LPL inhibition; the A allele is asso...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs4149268	ABCA1	Intronic ABCA1 variant — the C allele tags a liver enhancer that boosts ABCA1...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs4977574	CDKN2B-AS1 9p21.3	Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary arter...	Coronary Artery Disease & Atherosclerosis	Cholesterol	Established
rs4149274	ABCA1	Intronic ABCA1 variant influencing HDL-cholesterol levels through altered ABC...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs264	LPL LPL Intron 6 Variant	Intronic LPL variant associated with altered triglyceride clearance and HDL l...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs429358	APOE E4 determinant	Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high sat...	Cholesterol & Lipoproteins	Cholesterol	Established
rs4783961	CETP	CETP promoter variant that raises HDL cholesterol by reducing cholesteryl est...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs4900442	CYP46A1	Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele assoc...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs662	PON1 Q192R	Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and pr...	Vascular Inflammation & Remodeling	Cholesterol	Moderate
rs2854116	APOC3 T-455C	APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs520354	APOB APOB IVS6+360	Intronic APOB variant where the A allele (plus strand) is associated with app...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs2854117	APOC3 APOC3 C-482T	Promoter variant in APOC3 disrupting insulin-responsive regulation of apolipo...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs2918418	NR3C1	Intronic NR3C1 variant with CC genotype enriched in Polish centenarians; GG g...	Longevity & Aging	Cholesterol	Emerging
rs5888	SCARB1	Synonymous variant that reduces SR-BI receptor expression and impairs HDL cho...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs2963154	NR3C1	Intronic NR3C1 variant with TT genotype enriched in Polish centenarians; C al...	Longevity & Aging	Cholesterol	Emerging
rs606231236	APOB	Pathogenic APOB splice acceptor variant causing familial hypobetalipoproteine...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs7566605	INSIG2	Upstream regulatory variant near INSIG2 that influences lipogenesis control a...	Appetite & Obesity	Cholesterol	Moderate
rs2954021	TRIB1	Near-gene variant influencing hepatic lipid metabolism; G allele raises trigl...	Triglycerides & Fatty Acids	Cholesterol	Established
rs673548	APOB	Intronic APOB variant associated with modest differences in apolipoprotein B ...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs854571	PON1 PON1 -108C>T promoter variant	Promoter variant that controls PON1 transcription; the T allele reduces PON1 ...	Vascular Inflammation & Remodeling	Cholesterol	Strong
rs3211867	CD36	Intronic CD36 variant that reduces CD36 expression, impairing postprandial fa...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs854572	PON1 PON1 promoter -909G>C	Promoter polymorphism that modulates PON1 gene expression level — the G allel...	Vascular Inflammation & Remodeling	Cholesterol	Moderate
rs7412	APOE E2 determinant	APOE E2 variant - generally protective for cardiovascular health	Cholesterol & Lipoproteins	Cholesterol	Established
rs35136575	APOC1P1 HCR-2 Enhancer Variant	Regulatory variant in the APOE/APOC hepatic enhancer HCR-2 that lowers plasma...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs8192870	CYP7A1 CYP7A1 intron 1 variant	Intronic variant in the rate-limiting bile acid synthesis gene; T allele carr...	Cholesterol & Lipoproteins	Cholesterol	Moderate
rs3816873	MTTP MTTP I128T	Missense variant in MTTP (microsomal triglyceride transfer protein) at residu...	Fat Storage & Energy	Cholesterol	Moderate
rs838880	SCARB1	3' UTR variant in SCARB1 that tags a haplotype with reduced SR-BI expression ...	Cholesterol & Lipoproteins	Cholesterol	Strong
rs5882	CETP I405V	Missense variant that reduces CETP enzyme activity, raising HDL-C and enlargi...	Longevity & Aging	Cholesterol	Moderate
rs2943641	IRS1 Near-gene C>T	Regulates insulin signaling efficiency and cellular glucose uptake	Blood Sugar & Diabetes	Cholesterol	Strong
rs3829462	LIPC	Missense variant in hepatic lipase encoding p.Phe356Leu; the rare C allele (P...	Triglycerides & Fatty Acids	Cholesterol	Emerging
rs3487348	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 variant in the 100-kb haplotype block; T allele associated wit...	Blood Sugar & Diabetes	Cholesterol	Moderate
rs4148102	ABCG1 ABCG1 intronic PUFA-interaction variant	Intronic variant in the ABCG1 cholesterol efflux transporter gene that modifi...	Triglycerides & Fatty Acids	Cholesterol	Emerging
rs4775065	LIPC	Intronic LIPC variant associated with susceptibility to low HDL-C and coronar...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs5181	LRP8 Trp466Cys	Rare missense variant in the ApoE receptor 2 (LRP8) ligand-binding domain, di...	Fat Storage & Energy	Cholesterol	Emerging
rs4939883	LOC105372112	Intronic variant near LIPG whose T allele increases circulating endothelial l...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs5082	APOA2 -265T>C	Promoter variant that reduces APOA2 expression by 30%; GG homozygotes consumi...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs57137919	ABCG1	ABCG1 promoter variant that reduces transporter expression, impairing macroph...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs5956	CD36	Synonymous coding variant in CD36 fatty acid translocase; the minor A allele ...	Triglycerides & Fatty Acids	Cholesterol	Emerging
rs6507931	LIPG	Intronic LIPG variant that modulates HDL cholesterol levels, with strongest e...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs692383	ABCG1 ABCG1 HDL-c Variant	Intronic variant in the ABCG1 cholesterol efflux transporter gene associated ...	Triglycerides & Fatty Acids	Cholesterol	Emerging
rs8034802	LIPC	Intronic LIPC variant associated with higher baseline HDL-C and an amplified ...	Triglycerides & Fatty Acids	Cholesterol	Emerging
rs964184	ZNF259 ZNF259/BUD13 Triglyceride Variant	Common regulatory variant at the APOA5-ZNF259 locus; G allele reduces ApoAV p...	Triglycerides & Fatty Acids	Cholesterol	Strong
rs9951026	LIPG	Intronic LIPG variant that tags a haplotype associated with higher LDL choles...	Triglycerides & Fatty Acids	Cholesterol	Moderate
rs6017340	HNF4A HNF4A Regulatory Variant	Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation...	Blood Sugar & Diabetes	Cholesterol	Emerging
rs6067484	PTPN1 PTPN1 rs6067484	Intronic PTPN1 tag SNP within the 100-kb T2D-risk haplotype block — carriers ...	Blood Sugar & Diabetes	Cholesterol	Moderate