rs879254540
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 5 | Familial Hypercholesterolemia |
| (G;T) | 5 | Familial Hypercholesterolemia |
| (T;T) | 0 | common in clinvar |
| Make rs879254540(C;C) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 19 |
| Position | 11105384 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879254540 |
| dbSNP (classic) | rs879254540 |
| ClinGen | rs879254540 |
| ebi | rs879254540 |
| HLI | rs879254540 |
| Exac | rs879254540 |
| Gnomad | rs879254540 |
| Varsome | rs879254540 |
| LitVar | rs879254540 |
| Map | rs879254540 |
| PheGenI | rs879254540 |
| Biobank | rs879254540 |
| 1000 genomes | rs879254540 |
| hgdp | rs879254540 |
| ensembl | rs879254540 |
| geneview | rs879254540 |
| scholar | rs879254540 |
| rs879254540 | |
| pharmgkb | rs879254540 |
| gwascentral | rs879254540 |
| openSNP | rs879254540 |
| 23andMe | rs879254540 |
| SNPshot | rs879254540 |
| SNPdbe | rs879254540 |
| MSV3d | rs879254540 |
| GWAS Ctlg | rs879254540 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs879254540(C;C) rs879254540(G;G) |
| Alt | rs879254540(C;C) rs879254540(G;G) |
| Reference | Rs879254540(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11216060T>C; NC_000019.9:g.11216060T>G |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000237398.1, RCV000237986.1, |
