rs28942111
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 4.5 | Familial hypercholesterolemia |
| (T;T) | 0 | common in clinvar |
| Make rs28942111(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 55044016 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28942111 |
| dbSNP (classic) | rs28942111 |
| ClinGen | rs28942111 |
| ebi | rs28942111 |
| HLI | rs28942111 |
| Exac | rs28942111 |
| Gnomad | rs28942111 |
| Varsome | rs28942111 |
| LitVar | rs28942111 |
| Map | rs28942111 |
| PheGenI | rs28942111 |
| Biobank | rs28942111 |
| 1000 genomes | rs28942111 |
| hgdp | rs28942111 |
| ensembl | rs28942111 |
| geneview | rs28942111 |
| scholar | rs28942111 |
| rs28942111 | |
| pharmgkb | rs28942111 |
| gwascentral | rs28942111 |
| openSNP | rs28942111 |
| 23andMe | rs28942111 |
| SNPshot | rs28942111 |
| SNPdbe | rs28942111 |
| MSV3d | rs28942111 |
| GWAS Ctlg | rs28942111 |
| Max Magnitude | 4.5 |
rs28942111, also known as c.381T>A, p.Ser127Arg and S127R, is one of the first missense mutations in the PCSK9 gene found to lead to autosomal dominantly inherited familial hypercholesterolemia.[PMID 12730697]
See OMIM 607786.0001 for more information.
A 2019 news alert discusses a possible mechanism of action for this (S127R) mutation.
| ClinVar | |
|---|---|
| Risk | rs28942111(A;A) |
| Alt | rs28942111(A;A) |
| Reference | Rs28942111(T;T) |
| Significance | Pathogenic |
| Disease | Hypercholesterolemia |
| Variation | info |
| Gene | PCSK9 |
| CLNDBN | Hypercholesterolemia, autosomal dominant, 3 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55509689T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003007.2, |
