rs281874748
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs281874748(-;-) |
| Make rs281874748(-;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 108573584 |
| Gene | COL4A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281874748 |
| dbSNP (classic) | rs281874748 |
| ClinGen | rs281874748 |
| ebi | rs281874748 |
| HLI | rs281874748 |
| Exac | rs281874748 |
| Gnomad | rs281874748 |
| Varsome | rs281874748 |
| LitVar | rs281874748 |
| Map | rs281874748 |
| PheGenI | rs281874748 |
| Biobank | rs281874748 |
| 1000 genomes | rs281874748 |
| hgdp | rs281874748 |
| ensembl | rs281874748 |
| geneview | rs281874748 |
| scholar | rs281874748 |
| rs281874748 | |
| pharmgkb | rs281874748 |
| gwascentral | rs281874748 |
| openSNP | rs281874748 |
| 23andMe | rs281874748 |
| SNPshot | rs281874748 |
| SNPdbe | rs281874748 |
| MSV3d | rs281874748 |
| GWAS Ctlg | rs281874748 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281874748(-;-) |
| Alt | rs281874748(-;-) |
| Reference | Rs281874748(G;G) |
| Significance | Pathogenic |
| Disease | Alport syndrome |
| Variation | info |
| Gene | COL4A5 |
| CLNDBN | Alport syndrome, X-linked recessive |
| Reversed | 0 |
| HGVS | NC_000023.10:g.107816814delG |
| CLNSRC | ClinVar |
| CLNACC | RCV000032051.1, |
[PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.
