rs28942079
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | risk of hypercholesterolemia | |
| (A;G) | 5 | Familial Hypercholesterolemia |
| (C;G) | 5 | Familial Hypercholesterolemia |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11113382 |
| Gene | LDLR, MIR6886 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28942079 |
| dbSNP (classic) | rs28942079 |
| ClinGen | rs28942079 |
| ebi | rs28942079 |
| HLI | rs28942079 |
| Exac | rs28942079 |
| Gnomad | rs28942079 |
| Varsome | rs28942079 |
| LitVar | rs28942079 |
| Map | rs28942079 |
| PheGenI | rs28942079 |
| Biobank | rs28942079 |
| 1000 genomes | rs28942079 |
| hgdp | rs28942079 |
| ensembl | rs28942079 |
| geneview | rs28942079 |
| scholar | rs28942079 |
| rs28942079 | |
| pharmgkb | rs28942079 |
| gwascentral | rs28942079 |
| openSNP | rs28942079 |
| 23andMe | rs28942079 |
| SNPshot | rs28942079 |
| SNPdbe | rs28942079 |
| MSV3d | rs28942079 |
| GWAS Ctlg | rs28942079 |
| Max Magnitude | 5 |
aka c.1291G>A, p.Ala431Thr or A431T; also known as FH Algeria
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
[PMID 2377494
] hypercholesterolemia
| ClinVar | |
|---|---|
| Risk | Rs28942079(A;A) rs28942079(C;C) |
| Alt | Rs28942079(A;A) rs28942079(C;C) |
| Reference | Rs28942079(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR MIR6886 |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11224058G>A; NC_000019.9:g.11224058G>C |
| CLNSRC | LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003883.7, RCV000030126.1, |
