rs1057519680
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Familial Hypercholesterolemia |
| Chromosome | 19 |
| Position | 11120228 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057519680 |
| dbSNP (classic) | rs1057519680 |
| ClinGen | rs1057519680 |
| ebi | rs1057519680 |
| HLI | rs1057519680 |
| Exac | rs1057519680 |
| Gnomad | rs1057519680 |
| Varsome | rs1057519680 |
| LitVar | rs1057519680 |
| Map | rs1057519680 |
| PheGenI | rs1057519680 |
| Biobank | rs1057519680 |
| 1000 genomes | rs1057519680 |
| hgdp | rs1057519680 |
| ensembl | rs1057519680 |
| geneview | rs1057519680 |
| scholar | rs1057519680 |
| rs1057519680 | |
| pharmgkb | rs1057519680 |
| gwascentral | rs1057519680 |
| openSNP | rs1057519680 |
| 23andMe | rs1057519680 |
| SNPshot | rs1057519680 |
| SNPdbe | rs1057519680 |
| MSV3d | rs1057519680 |
| GWAS Ctlg | rs1057519680 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs1057519680(T;T) |
| Alt | rs1057519680(T;T) |
| Reference | Rs1057519680(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11230904C>T |
| CLNSRC | |
| CLNACC | RCV000417270.1, |
