Variant (rsID / SNP)
rs562556
rs562556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCSK9. Location: chromosome 1, position 55,524,237. Clinical significance in the table: Benign/Likely_benign.
Reference-table entries
PCSK9Benign
- Clinical significance (as recorded)
- Benign/Likely_benign
- Variant type
- missense_variant
- Chromosome / position
- 1:55524237
- HGVS
- NM_174936.4,c.1420G>A,p.Val474Ile
- Allele change
- Missense_V474I
Associated conditions / phenotypes
Lipoprotein Quantitative Trait Locus|Arteries, Anomalies of|Coronary Stenosis|Malaria|Coronary Heart Disease 1|Polycystic Ovary Syndrome|Lipid Metabolism Disorder|Hypercholesterolemia, Familial, 1|Thrombosis|Familial Hypercholesterolemia|Myocardial Infarction|Hypercholesterolemia, Familial, 3|Toxic Shock Syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.