rs771943519
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (ATGAGT;ATGAGT) | 0 | common in clinvar |
| Make rs771943519(-;-) |
| Make rs771943519(-;ATGAGT) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 227144544 |
| Gene | COL4A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs771943519 |
| dbSNP (classic) | rs771943519 |
| ClinGen | rs771943519 |
| ebi | rs771943519 |
| HLI | rs771943519 |
| Exac | rs771943519 |
| Gnomad | rs771943519 |
| Varsome | rs771943519 |
| LitVar | rs771943519 |
| Map | rs771943519 |
| PheGenI | rs771943519 |
| Biobank | rs771943519 |
| 1000 genomes | rs771943519 |
| hgdp | rs771943519 |
| ensembl | rs771943519 |
| geneview | rs771943519 |
| scholar | rs771943519 |
| rs771943519 | |
| pharmgkb | rs771943519 |
| gwascentral | rs771943519 |
| openSNP | rs771943519 |
| 23andMe | rs771943519 |
| SNPshot | rs771943519 |
| SNPdbe | rs771943519 |
| MSV3d | rs771943519 |
| GWAS Ctlg | rs771943519 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs771943519(-;-) |
| Alt | rs771943519(-;-) |
| Reference | Rs771943519(ATGAGT;ATGAGT) |
| Significance | Probable-Pathogenic |
| Disease | Alport syndrome not specified |
| Variation | info |
| Gene | COL4A4 |
| CLNDBN | Alport syndrome, autosomal dominant not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.228009260_228009265delATGAGT |
| CLNSRC | |
| CLNACC | RCV000408829.1, RCV000483576.1, |
