rs28942080
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | |
| (A;G) | 5 | Familial Hypercholesterolemia |
| (G;G) | 0 | common in complete genomics |
| (G;T) | 5 | Familial Hypercholesterolemia |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11113743 |
| Gene | LDLR, MIR6886 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28942080 |
| dbSNP (classic) | rs28942080 |
| ClinGen | rs28942080 |
| ebi | rs28942080 |
| HLI | rs28942080 |
| Exac | rs28942080 |
| Gnomad | rs28942080 |
| Varsome | rs28942080 |
| LitVar | rs28942080 |
| Map | rs28942080 |
| PheGenI | rs28942080 |
| Biobank | rs28942080 |
| 1000 genomes | rs28942080 |
| hgdp | rs28942080 |
| ensembl | rs28942080 |
| geneview | rs28942080 |
| scholar | rs28942080 |
| rs28942080 | |
| pharmgkb | rs28942080 |
| gwascentral | rs28942080 |
| openSNP | rs28942080 |
| 23andMe | rs28942080 |
| SNPshot | rs28942080 |
| SNPdbe | rs28942080 |
| MSV3d | rs28942080 |
| GWAS Ctlg | rs28942080 |
| Max Magnitude | 5 |
aka c.1567G>A, p.Val523Met or V523M; also known as FH Kuwait
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
[PMID 2377494
] Familial Hypercholesterolemia
| ClinVar | |
|---|---|
| Risk | Rs28942080(A;A) rs28942080(C;C) rs28942080(T;T) |
| Alt | Rs28942080(A;A) rs28942080(C;C) rs28942080(T;T) |
| Reference | Rs28942080(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not provided |
| Variation | info |
| Gene | LDLR MIR6886 |
| CLNDBN | Familial hypercholesterolemia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11224419G>A; NC_000019.9:g.11224419G>T |
| CLNSRC | LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003884.7, RCV000161992.3, RCV000238520.1, |
