rs28942082
From SNPedia
| Familal Hypercholesterolemia. A GGC-to-GTC mutation is responsible for this variant (Leitersdorf and Hobbs, 1990). |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Familial Hypercholesterolemia |
| (C;G) | 5 | Familial Hypercholesterolemia |
| (G;G) | 0 | common in complete genomics |
| (G;T) | 5 | Familial Hypercholesterolemia |
| (T;T) | 3 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11116201 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28942082 |
| dbSNP (classic) | rs28942082 |
| ClinGen | rs28942082 |
| ebi | rs28942082 |
| HLI | rs28942082 |
| Exac | rs28942082 |
| Gnomad | rs28942082 |
| Varsome | rs28942082 |
| LitVar | rs28942082 |
| Map | rs28942082 |
| PheGenI | rs28942082 |
| Biobank | rs28942082 |
| 1000 genomes | rs28942082 |
| hgdp | rs28942082 |
| ensembl | rs28942082 |
| geneview | rs28942082 |
| scholar | rs28942082 |
| rs28942082 | |
| pharmgkb | rs28942082 |
| gwascentral | rs28942082 |
| openSNP | rs28942082 |
| 23andMe | rs28942082 |
| SNPshot | rs28942082 |
| SNPdbe | rs28942082 |
| MSV3d | rs28942082 |
| GWAS Ctlg | rs28942082 |
| Max Magnitude | 5 |
aka c.1694G>T, p.Gly565Val or G565V; also known as FH Naples
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
| ClinVar | |
|---|---|
| Risk | rs28942082(A;A) rs28942082(C;C) Rs28942082(T;T) |
| Alt | rs28942082(A;A) rs28942082(C;C) Rs28942082(T;T) |
| Reference | Rs28942082(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11226877G>A; NC_000019.9:g.11226877G>C; NC_000019.9:g.11226877G>T |
| CLNSRC | LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000417317.1, RCV000211673.2, RCV000003874.5, |
