rs569681869
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs569681869(C;G) |
| Make rs569681869(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 227059468 |
| Gene | COL4A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs569681869 |
| dbSNP (classic) | rs569681869 |
| ClinGen | rs569681869 |
| ebi | rs569681869 |
| HLI | rs569681869 |
| Exac | rs569681869 |
| Gnomad | rs569681869 |
| Varsome | rs569681869 |
| LitVar | rs569681869 |
| Map | rs569681869 |
| PheGenI | rs569681869 |
| Biobank | rs569681869 |
| 1000 genomes | rs569681869 |
| hgdp | rs569681869 |
| ensembl | rs569681869 |
| geneview | rs569681869 |
| scholar | rs569681869 |
| rs569681869 | |
| pharmgkb | rs569681869 |
| gwascentral | rs569681869 |
| openSNP | rs569681869 |
| 23andMe | rs569681869 |
| SNPshot | rs569681869 |
| SNPdbe | rs569681869 |
| MSV3d | rs569681869 |
| GWAS Ctlg | rs569681869 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs569681869(G;G) |
| Alt | rs569681869(G;G) |
| Reference | Rs569681869(C;C) |
| Significance | Pathogenic |
| Disease | Alport syndrome |
| Variation | info |
| Gene | COL4A4 |
| CLNDBN | Alport syndrome, autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000002.11:g.227924184C>G |
| CLNSRC | |
| CLNACC | RCV000207535.1, |
