rs780383722
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs780383722(A;A) |
| Make rs780383722(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 55684952 |
| Gene | PNPT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs780383722 |
| dbSNP (classic) | rs780383722 |
| ClinGen | rs780383722 |
| ebi | rs780383722 |
| HLI | rs780383722 |
| Exac | rs780383722 |
| Gnomad | rs780383722 |
| Varsome | rs780383722 |
| LitVar | rs780383722 |
| Map | rs780383722 |
| PheGenI | rs780383722 |
| Biobank | rs780383722 |
| 1000 genomes | rs780383722 |
| hgdp | rs780383722 |
| ensembl | rs780383722 |
| geneview | rs780383722 |
| scholar | rs780383722 |
| rs780383722 | |
| pharmgkb | rs780383722 |
| gwascentral | rs780383722 |
| openSNP | rs780383722 |
| 23andMe | rs780383722 |
| SNPshot | rs780383722 |
| SNPdbe | rs780383722 |
| MSV3d | rs780383722 |
| GWAS Ctlg | rs780383722 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs780383722(A;A) |
| Alt | rs780383722(A;A) |
| Reference | Rs780383722(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PNPT1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.55912087G>A |
| CLNSRC | |
| CLNACC | RCV000197484.1, |
