Tag

LDL Cholesterol

36 genetic variants with this tag.

RSID	Gene	Description	Category
rs137852912	PCSK9 D374Y	The most severe gain-of-function PCSK9 mutation, increasing LDLR-binding affi...	Atherogenic Lipoproteins	LDL Cholesterol	Established
rs1125226	CYP7A1 CYP7A1 upstream promoter variant	Upstream regulatory variant in CYP7A1 that tags haplotypes affecting bile aci...	Cholesterol & Lipoproteins	LDL Cholesterol	Emerging
rs137853964	LDLR Val827Ile / Val827Phe	LDLR missense variant at position 827 within the cytoplasmic NPXY internaliza...	Atherogenic Lipoproteins	LDL Cholesterol	Moderate
rs121918383	APOB APOB Arg1333Ter	Nonsense mutation in APOB creating a premature stop codon at position 1333, t...	Cholesterol & Lipoproteins	LDL Cholesterol	Strong
rs12740374	SORT1 1p13.3 locus	Regulatory variant that increases sortilin expression, lowering LDL cholester...	Coronary Artery Disease & Atherosclerosis	LDL Cholesterol	Established
rs186021206	ASGR1	Intergenic tag SNP 7.3 kb downstream of ASGR1; the rare A allele proxies the ...	Atherogenic Lipoproteins	LDL Cholesterol	Strong
rs121918385	APOB APOB Glu4034fs	Frameshift deletion in APOB that truncates apolipoprotein B, causing familial...	Cholesterol & Lipoproteins	LDL Cholesterol	Strong
rs2131925	ANGPTL3 DOCK7/ANGPTL3 Locus Tag SNP	Intronic tag SNP in the DOCK7/ANGPTL3 region; the T allele is associated with...	Atherogenic Lipoproteins	LDL Cholesterol	Strong
rs28942111	PCSK9 S127R	Gain-of-function PCSK9 missense variant (Ser127Arg) causing autosomal dominan...	Atherogenic Lipoproteins	LDL Cholesterol	Established
rs505151	PCSK9 E670G	Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL c...	Atherogenic Lipoproteins	LDL Cholesterol	Moderate
rs1169288	HNF1A HNF1A Ile27Leu	Common coding variant in the HNF1A transcription factor dimerization domain t...	Blood Sugar & Diabetes	LDL Cholesterol	Strong
rs5174	LRP8 LRP8 R952Q	Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at positi...	Atherogenic Lipoproteins	LDL Cholesterol	Moderate
rs137943601	LDLR LDLR E408* (Glu408Ter)	Nonsense mutation in the LDLR gene creating a premature stop codon at positio...	Cholesterol & Lipoproteins	LDL Cholesterol	Strong
rs174561	FADS1	Intronic variant in the FADS1 gene cluster that tags a haplotype block contro...	Triglycerides & Fatty Acids	LDL Cholesterol	Strong
rs55714927	ASGR1 ASGR1 K89K	Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen...	Atherogenic Lipoproteins	LDL Cholesterol	Strong
rs1457043	CYP7A1	Intronic variant in CYP7A1 that tags a haplotype block influencing cholestero...	Cholesterol & Lipoproteins	LDL Cholesterol	Moderate
rs5925	LDLR LDLR Expression Co-variant	Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in...	Atherogenic Lipoproteins	LDL Cholesterol	Moderate
rs185392267	PCSK9 Arg96Cys	Gain-of-function missense variant in PCSK9 that increases intracellular LDL r...	Cholesterol & Lipoproteins	LDL Cholesterol	Strong
rs2228314	SREBF2 SREBF2 G1784C	Missense variant in the master cholesterol transcription factor SREBP-2 that ...	Cholesterol & Lipoproteins	LDL Cholesterol	Moderate
rs688	LDLR Asn591Asn (c.1773C>T)	Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor ...	Atherogenic Lipoproteins	LDL Cholesterol	Strong
rs2853579	ABCA1	Synonymous coding variant in ABCA1 that tags a regulatory element influencing...	Cholesterol & Lipoproteins	LDL Cholesterol	Strong
rs730882094	LDLR Asn316Ser (N316S)	Rare likely-pathogenic missense variant in the LDLR EGF-like repeat domain ca...	Atherogenic Lipoproteins	LDL Cholesterol	Strong
rs730882105	LDLR p.Val524Met	Rare LDLR missense variant (c.1570G>A, p.Val524Met) associated with familial ...	Atherogenic Lipoproteins	LDL Cholesterol	Moderate
rs28942084	LDLR LDLR Pro685Leu	Pathogenic LDLR missense variant in the EGF precursor domain causing familial...	Cholesterol & Lipoproteins	LDL Cholesterol	Established
rs763625913	LDLR Q770* (c.2308C>T)	Rare pathogenic nonsense variant in the LDL receptor gene that abolishes rece...	Atherogenic Lipoproteins	LDL Cholesterol	Established
rs28942085	LDLR LDLR Y828C (J.D. mutation)	Pathogenic LDLR missense variant (p.Tyr828Cys) that traps LDL receptors outsi...	Cholesterol & Lipoproteins	LDL Cholesterol	Established
rs4537545	IL6R IL6R intron variant	Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala...	Coronary Artery Disease & Atherosclerosis	LDL Cholesterol	Strong
rs3846663	HMGCR HMGCR Exon 13 Haplotype Tag	Intronic HMGCR variant that tags a haplotype influencing exon 13 alternative ...	Cholesterol & Lipoproteins	LDL Cholesterol	Strong
rs606231236	APOB	Pathogenic APOB splice acceptor variant causing familial hypobetalipoproteine...	Cholesterol & Lipoproteins	LDL Cholesterol	Strong
rs35136575	APOC1P1 HCR-2 Enhancer Variant	Regulatory variant in the APOE/APOC hepatic enhancer HCR-2 that lowers plasma...	Triglycerides & Fatty Acids	LDL Cholesterol	Strong
rs8192870	CYP7A1 CYP7A1 intron 1 variant	Intronic variant in the rate-limiting bile acid synthesis gene; T allele carr...	Cholesterol & Lipoproteins	LDL Cholesterol	Moderate
rs3487348	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 variant in the 100-kb haplotype block; T allele associated wit...	Blood Sugar & Diabetes	LDL Cholesterol	Moderate
rs3787345	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype b...	Blood Sugar & Diabetes	LDL Cholesterol	Moderate
rs709158	PPARG	Intronic PPARG variant in strong linkage disequilibrium with rs1175543; the G...	Fat Storage & Energy	LDL Cholesterol	Emerging
rs7649970	PPARG PPARG C-689T	PPARG PPARγ2 P2 promoter variant that reduces basal promoter activity, elevat...	Fat Storage & Energy	LDL Cholesterol	Moderate
rs6020611	PTPN1	Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele i...	Blood Sugar & Diabetes	LDL Cholesterol	Moderate