rs28942112
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 5 | Familial Hypercholesterolemia |
| (T;T) | 0 | common in clinvar |
| Make rs28942112(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 55052400 |
| Gene | PCSK9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28942112 |
| dbSNP (classic) | rs28942112 |
| ClinGen | rs28942112 |
| ebi | rs28942112 |
| HLI | rs28942112 |
| Exac | rs28942112 |
| Gnomad | rs28942112 |
| Varsome | rs28942112 |
| LitVar | rs28942112 |
| Map | rs28942112 |
| PheGenI | rs28942112 |
| Biobank | rs28942112 |
| 1000 genomes | rs28942112 |
| hgdp | rs28942112 |
| ensembl | rs28942112 |
| geneview | rs28942112 |
| scholar | rs28942112 |
| rs28942112 | |
| pharmgkb | rs28942112 |
| gwascentral | rs28942112 |
| openSNP | rs28942112 |
| 23andMe | rs28942112 |
| SNPshot | rs28942112 |
| SNPdbe | rs28942112 |
| MSV3d | rs28942112 |
| GWAS Ctlg | rs28942112 |
| Max Magnitude | 5 |
rs28942112, also known as c.646T>C, p.Phe216Leu and F216L, is one of the first mutations in the PCSK9 gene reported to lead to autosomal dominantly inherited familial hypercholesterolemia.[PMID 12730697]
See OMIM 607786.0002 for more information.
This SNP is referred to as i5000370 by 23andMe.
| ClinVar | |
|---|---|
| Risk | rs28942112(C;C) |
| Alt | rs28942112(C;C) |
| Reference | Rs28942112(T;T) |
| Significance | Pathogenic |
| Disease | Hypercholesterolemia |
| Variation | info |
| Gene | PCSK9 |
| CLNDBN | Hypercholesterolemia, autosomal dominant, 3 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55518073T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003008.2, |
