rs373369949
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs373369949(A;A) |
| Make rs373369949(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 5874542 |
| Gene | NPHP4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373369949 |
| dbSNP (classic) | rs373369949 |
| ClinGen | rs373369949 |
| ebi | rs373369949 |
| HLI | rs373369949 |
| Exac | rs373369949 |
| Gnomad | rs373369949 |
| Varsome | rs373369949 |
| LitVar | rs373369949 |
| Map | rs373369949 |
| PheGenI | rs373369949 |
| Biobank | rs373369949 |
| 1000 genomes | rs373369949 |
| hgdp | rs373369949 |
| ensembl | rs373369949 |
| geneview | rs373369949 |
| scholar | rs373369949 |
| rs373369949 | |
| pharmgkb | rs373369949 |
| gwascentral | rs373369949 |
| openSNP | rs373369949 |
| 23andMe | rs373369949 |
| SNPshot | rs373369949 |
| SNPdbe | rs373369949 |
| MSV3d | rs373369949 |
| GWAS Ctlg | rs373369949 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373369949(A;A) rs373369949(T;T) |
| Alt | rs373369949(A;A) rs373369949(T;T) |
| Reference | Rs373369949(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | NPHP4 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.5934602G>A |
| CLNSRC | |
| CLNACC | RCV000171147.1, |
