rs281874682
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs281874682(C;T) |
| Make rs281874682(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 108598805 |
| Gene | COL4A5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281874682 |
| dbSNP (classic) | rs281874682 |
| ClinGen | rs281874682 |
| ebi | rs281874682 |
| HLI | rs281874682 |
| Exac | rs281874682 |
| Gnomad | rs281874682 |
| Varsome | rs281874682 |
| LitVar | rs281874682 |
| Map | rs281874682 |
| PheGenI | rs281874682 |
| Biobank | rs281874682 |
| 1000 genomes | rs281874682 |
| hgdp | rs281874682 |
| ensembl | rs281874682 |
| geneview | rs281874682 |
| scholar | rs281874682 |
| rs281874682 | |
| pharmgkb | rs281874682 |
| gwascentral | rs281874682 |
| openSNP | rs281874682 |
| 23andMe | rs281874682 |
| SNPshot | rs281874682 |
| SNPdbe | rs281874682 |
| MSV3d | rs281874682 |
| GWAS Ctlg | rs281874682 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281874682(A;A) rs281874682(T;T) |
| Alt | rs281874682(A;A) rs281874682(T;T) |
| Reference | Rs281874682(C;C) |
| Significance | Pathogenic |
| Disease | Alport syndrome |
| Variation | info |
| Gene | COL4A5 |
| CLNDBN | Alport syndrome, X-linked recessive |
| Reversed | 0 |
| HGVS | NC_000023.10:g.107842035C>T |
| CLNSRC | ARUP COL4A5 |
| CLNACC | RCV000032061.1, |
[PMID 21332469] X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
