rs67608943
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;G) | 3 | 40% reduction in LDL-cholesterol |
| (G;G) | 3 | Strong reduction in LDL-C |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 55046549 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs67608943 |
| dbSNP (classic) | rs67608943 |
| ClinGen | rs67608943 |
| ebi | rs67608943 |
| HLI | rs67608943 |
| Exac | rs67608943 |
| Gnomad | rs67608943 |
| Varsome | rs67608943 |
| LitVar | rs67608943 |
| Map | rs67608943 |
| PheGenI | rs67608943 |
| Biobank | rs67608943 |
| 1000 genomes | rs67608943 |
| hgdp | rs67608943 |
| ensembl | rs67608943 |
| geneview | rs67608943 |
| scholar | rs67608943 |
| rs67608943 | |
| pharmgkb | rs67608943 |
| gwascentral | rs67608943 |
| openSNP | rs67608943 |
| 23andMe | rs67608943 |
| SNPshot | rs67608943 |
| SNPdbe | rs67608943 |
| MSV3d | rs67608943 |
| GWAS Ctlg | rs67608943 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
rs67608943, also known as Y142X, is a SNP in the PCSK9 gene.
It has been reported in several studies (including [PMID 15654334]) to be both rare (2% frequency in Africans, 0.1% in Europeans) and as a dominant nonsense mutation a cause of plasma LDL-C levels being up to 40% lower than average. This lowered LDL-C level is thought to be directly associated with very significantly lowered risk for coronary events.
| ClinVar | |
|---|---|
| Risk | Rs67608943(G;G) |
| Alt | Rs67608943(G;G) |
| Reference | Rs67608943(C;C) |
| Significance | Other |
| Disease | Low density lipoprotein cholesterol level quantitative trait locus 1 |
| Variation | info |
| Gene | PCSK9 |
| CLNDBN | Low density lipoprotein cholesterol level quantitative trait locus 1 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55512222C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003010.3, |
