Variant (rsID / SNP)
rs5888
rs5888 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCARB1. Location: chromosome 12, position 125,284,748. The table records no clinical significance for this variant.
Reference-table entries
- Variant type
- synonymous_variant
- Chromosome / position
- 12:125284748
- HGVS
- NM_001367981.1,c.1050T>C,p.Ala350Ala
- Allele change
- Synonymous_A350A
Associated conditions / phenotypes
Lipoprotein Quantitative Trait Locus|Arteries, Anomalies of|Macular Degeneration, Age-Related, 1|Heart Disease|Coronary Heart Disease 1|Ischemia|Hypercholesterolemia, Familial, 1|Hypercholesterolemia, Familial, 3|Retinal Disease|Lipid Metabolism Disorder|Hepatitis C|Myocardial Infarction|Body Mass Index Quantitative Trait Locus 1|Coronary Stenosis|Oocyte Maturation Defect 1|Hepatitis C Virus|Hepatitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.