Tag
LDL Cholesterol
16 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs137853964 | LDLR Val827Ile / Val827Phe | LDLR missense variant at position 827 within the cytoplasmic NPXY internaliza... | Atherogenic Lipoproteins | Moderate | |
| rs121918383 | APOB APOB Arg1333Ter | Nonsense mutation in APOB creating a premature stop codon at position 1333, t... | Cholesterol & Lipoproteins | Strong | |
| rs12740374 | SORT1 1p13.3 locus | Regulatory variant that increases sortilin expression, lowering LDL cholester... | Coronary Artery Disease & Atherosclerosis | Established | |
| rs2131925 | ANGPTL3 DOCK7/ANGPTL3 Locus Tag SNP | Intronic tag SNP in the DOCK7/ANGPTL3 region; the T allele is associated with... | Atherogenic Lipoproteins | Strong | |
| rs1457043 | CYP7A1 | Intronic variant in CYP7A1 that tags a haplotype block influencing cholestero... | Cholesterol & Lipoproteins | Moderate | |
| rs185392267 | PCSK9 Arg96Cys | Gain-of-function missense variant in PCSK9 that increases intracellular LDL r... | Cholesterol & Lipoproteins | Strong | |
| rs1169288 | HNF1A HNF1A Ile27Leu | Common coding variant in the HNF1A transcription factor dimerization domain t... | Blood Sugar & Diabetes | Strong | |
| rs505151 | PCSK9 E670G | Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL c... | Atherogenic Lipoproteins | Moderate | |
| rs5174 | LRP8 LRP8 R952Q | Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at positi... | Atherogenic Lipoproteins | Moderate | |
| rs55714927 | ASGR1 ASGR1 K89K | Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen... | Atherogenic Lipoproteins | Strong | |
| rs5925 | LDLR LDLR Expression Co-variant | Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in... | Atherogenic Lipoproteins | Moderate | |
| rs174561 | FADS1 | Intronic variant in the FADS1 gene cluster that tags a haplotype block contro... | Triglycerides & Fatty Acids | Strong | |
| rs688 | LDLR Asn591Asn (c.1773C>T) | Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor ... | Atherogenic Lipoproteins | Strong | |
| rs4537545 | IL6R IL6R intron variant | Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs3787345 | PTPN1 PTPN1 LD Block Co-Variant | Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype b... | Blood Sugar & Diabetes | Moderate | |
| rs6020611 | PTPN1 | Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele i... | Blood Sugar & Diabetes | Moderate |