rs539286945
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs539286945(A;A) |
| Make rs539286945(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 49861679 |
| Gene | PNKP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs539286945 |
| dbSNP (classic) | rs539286945 |
| ClinGen | rs539286945 |
| ebi | rs539286945 |
| HLI | rs539286945 |
| Exac | rs539286945 |
| Gnomad | rs539286945 |
| Varsome | rs539286945 |
| LitVar | rs539286945 |
| Map | rs539286945 |
| PheGenI | rs539286945 |
| Biobank | rs539286945 |
| 1000 genomes | rs539286945 |
| hgdp | rs539286945 |
| ensembl | rs539286945 |
| geneview | rs539286945 |
| scholar | rs539286945 |
| rs539286945 | |
| pharmgkb | rs539286945 |
| gwascentral | rs539286945 |
| openSNP | rs539286945 |
| 23andMe | rs539286945 |
| SNPshot | rs539286945 |
| SNPdbe | rs539286945 |
| MSV3d | rs539286945 |
| GWAS Ctlg | rs539286945 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs539286945(A;A) |
| Alt | rs539286945(A;A) |
| Reference | Rs539286945(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PNKP |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.50364936G>A |
| CLNSRC | |
| CLNACC | RCV000434738.1, |
