rs72646508
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common |
| (C;T) | 3 | Lowered LDL-C and reduced risk for coronary events |
| (T;T) | 3 | Lower LDL-C and lowered risk for coronary events |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 55052749 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72646508 |
| dbSNP (classic) | rs72646508 |
| ClinGen | rs72646508 |
| ebi | rs72646508 |
| HLI | rs72646508 |
| Exac | rs72646508 |
| Gnomad | rs72646508 |
| Varsome | rs72646508 |
| LitVar | rs72646508 |
| Map | rs72646508 |
| PheGenI | rs72646508 |
| Biobank | rs72646508 |
| 1000 genomes | rs72646508 |
| hgdp | rs72646508 |
| ensembl | rs72646508 |
| geneview | rs72646508 |
| scholar | rs72646508 |
| rs72646508 | |
| pharmgkb | rs72646508 |
| gwascentral | rs72646508 |
| openSNP | rs72646508 |
| 23andMe | rs72646508 |
| SNPshot | rs72646508 |
| SNPdbe | rs72646508 |
| MSV3d | rs72646508 |
| GWAS Ctlg | rs72646508 |
| Max Magnitude | 3 |
rs72646508, also known as L253F, is a SNP in the PCSK9 gene.
It has been reported in several studies (including [PMID 16554528] and [PMID 18354102]) to be associated with reductions in total cholesterol as well as LDL-C, and most importantly, with significantly lowered risk for coronary events.
