rs137893343
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs137893343(C;C) |
| Make rs137893343(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 55672026 |
| Gene | PNPT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137893343 |
| dbSNP (classic) | rs137893343 |
| ClinGen | rs137893343 |
| ebi | rs137893343 |
| HLI | rs137893343 |
| Exac | rs137893343 |
| Gnomad | rs137893343 |
| Varsome | rs137893343 |
| LitVar | rs137893343 |
| Map | rs137893343 |
| PheGenI | rs137893343 |
| Biobank | rs137893343 |
| 1000 genomes | rs137893343 |
| hgdp | rs137893343 |
| ensembl | rs137893343 |
| geneview | rs137893343 |
| scholar | rs137893343 |
| rs137893343 | |
| pharmgkb | rs137893343 |
| gwascentral | rs137893343 |
| openSNP | rs137893343 |
| 23andMe | rs137893343 |
| SNPshot | rs137893343 |
| SNPdbe | rs137893343 |
| MSV3d | rs137893343 |
| GWAS Ctlg | rs137893343 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137893343(C;C) |
| Alt | rs137893343(C;C) |
| Reference | Rs137893343(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PNPT1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.55899161T>C |
| CLNSRC | |
| CLNACC | RCV000200039.1, |
