rs760462252
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs760462252(C;T) |
| Make rs760462252(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 227307839 |
| Gene | COL4A3, LOC654841 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760462252 |
| dbSNP (classic) | rs760462252 |
| ClinGen | rs760462252 |
| ebi | rs760462252 |
| HLI | rs760462252 |
| Exac | rs760462252 |
| Gnomad | rs760462252 |
| Varsome | rs760462252 |
| LitVar | rs760462252 |
| Map | rs760462252 |
| PheGenI | rs760462252 |
| Biobank | rs760462252 |
| 1000 genomes | rs760462252 |
| hgdp | rs760462252 |
| ensembl | rs760462252 |
| geneview | rs760462252 |
| scholar | rs760462252 |
| rs760462252 | |
| pharmgkb | rs760462252 |
| gwascentral | rs760462252 |
| openSNP | rs760462252 |
| 23andMe | rs760462252 |
| SNPshot | rs760462252 |
| SNPdbe | rs760462252 |
| MSV3d | rs760462252 |
| GWAS Ctlg | rs760462252 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760462252(T;T) |
| Alt | rs760462252(T;T) |
| Reference | Rs760462252(C;C) |
| Significance | Pathogenic |
| Disease | Alport syndrome |
| Variation | info |
| Gene | COL4A3 LOC654841 |
| CLNDBN | Alport syndrome, autosomal dominant |
| Reversed | 0 |
| HGVS | NC_000002.11:g.228172555C>T |
| CLNSRC | |
| CLNACC | RCV000416721.1, |
