rs375040636
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs375040636(A;A) |
| Make rs375040636(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 227279882 |
| Gene | COL4A3, LOC654841 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375040636 |
| dbSNP (classic) | rs375040636 |
| ClinGen | rs375040636 |
| ebi | rs375040636 |
| HLI | rs375040636 |
| Exac | rs375040636 |
| Gnomad | rs375040636 |
| Varsome | rs375040636 |
| LitVar | rs375040636 |
| Map | rs375040636 |
| PheGenI | rs375040636 |
| Biobank | rs375040636 |
| 1000 genomes | rs375040636 |
| hgdp | rs375040636 |
| ensembl | rs375040636 |
| geneview | rs375040636 |
| scholar | rs375040636 |
| rs375040636 | |
| pharmgkb | rs375040636 |
| gwascentral | rs375040636 |
| openSNP | rs375040636 |
| 23andMe | rs375040636 |
| SNPshot | rs375040636 |
| SNPdbe | rs375040636 |
| MSV3d | rs375040636 |
| GWAS Ctlg | rs375040636 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375040636(A;A) |
| Alt | rs375040636(A;A) |
| Reference | Rs375040636(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Alport syndrome |
| Variation | info |
| Gene | COL4A3 LOC654841 |
| CLNDBN | Alport syndrome, autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000002.11:g.228144598G>A |
| CLNSRC | |
| CLNACC | RCV000411680.1, |
