rs778034451
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs778034451(A;A) |
| Make rs778034451(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 227273117 |
| Gene | COL4A3, LOC654841 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs778034451 |
| dbSNP (classic) | rs778034451 |
| ClinGen | rs778034451 |
| ebi | rs778034451 |
| HLI | rs778034451 |
| Exac | rs778034451 |
| Gnomad | rs778034451 |
| Varsome | rs778034451 |
| LitVar | rs778034451 |
| Map | rs778034451 |
| PheGenI | rs778034451 |
| Biobank | rs778034451 |
| 1000 genomes | rs778034451 |
| hgdp | rs778034451 |
| ensembl | rs778034451 |
| geneview | rs778034451 |
| scholar | rs778034451 |
| rs778034451 | |
| pharmgkb | rs778034451 |
| gwascentral | rs778034451 |
| openSNP | rs778034451 |
| 23andMe | rs778034451 |
| SNPshot | rs778034451 |
| SNPdbe | rs778034451 |
| MSV3d | rs778034451 |
| GWAS Ctlg | rs778034451 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs778034451(A;A) |
| Alt | rs778034451(A;A) |
| Reference | Rs778034451(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Alport syndrome Alport syndrome |
| Variation | info |
| Gene | COL4A3 LOC654841 |
| CLNDBN | Alport syndrome Alport syndrome, autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000002.11:g.228137833G>A |
| CLNSRC | |
| CLNACC | RCV000348330.1, RCV000449541.1, |
