rs121912825
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121912825(C;G) |
| Make rs121912825(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 227309007 |
| Gene | COL4A3, LOC654841 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912825 |
| dbSNP (classic) | rs121912825 |
| ClinGen | rs121912825 |
| ebi | rs121912825 |
| HLI | rs121912825 |
| Exac | rs121912825 |
| Gnomad | rs121912825 |
| Varsome | rs121912825 |
| LitVar | rs121912825 |
| Map | rs121912825 |
| PheGenI | rs121912825 |
| Biobank | rs121912825 |
| 1000 genomes | rs121912825 |
| hgdp | rs121912825 |
| ensembl | rs121912825 |
| geneview | rs121912825 |
| scholar | rs121912825 |
| rs121912825 | |
| pharmgkb | rs121912825 |
| gwascentral | rs121912825 |
| openSNP | rs121912825 |
| 23andMe | rs121912825 |
| SNPshot | rs121912825 |
| SNPdbe | rs121912825 |
| MSV3d | rs121912825 |
| GWAS Ctlg | rs121912825 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912825(G;G) |
| Alt | rs121912825(G;G) |
| Reference | Rs121912825(C;C) |
| Significance | Pathogenic |
| Disease | Alport syndrome |
| Variation | info |
| Gene | COL4A3 LOC654841 |
| CLNDBN | Alport syndrome, autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000002.11:g.228173723C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019037.26, |
[PMID 7987301] Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
