rs375781731
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs375781731(A;A) |
| Make rs375781731(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 49865135 |
| Gene | PNKP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375781731 |
| dbSNP (classic) | rs375781731 |
| ClinGen | rs375781731 |
| ebi | rs375781731 |
| HLI | rs375781731 |
| Exac | rs375781731 |
| Gnomad | rs375781731 |
| Varsome | rs375781731 |
| LitVar | rs375781731 |
| Map | rs375781731 |
| PheGenI | rs375781731 |
| Biobank | rs375781731 |
| 1000 genomes | rs375781731 |
| hgdp | rs375781731 |
| ensembl | rs375781731 |
| geneview | rs375781731 |
| scholar | rs375781731 |
| rs375781731 | |
| pharmgkb | rs375781731 |
| gwascentral | rs375781731 |
| openSNP | rs375781731 |
| 23andMe | rs375781731 |
| SNPshot | rs375781731 |
| SNPdbe | rs375781731 |
| MSV3d | rs375781731 |
| GWAS Ctlg | rs375781731 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375781731(A;A) |
| Alt | rs375781731(A;A) |
| Reference | Rs375781731(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PNKP |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.50368392G>A |
| CLNSRC | |
| CLNACC | RCV000188429.2, |
