rs793888530
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs793888530(A;T) |
| Make rs793888530(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 140114182 |
| Gene | PURA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs793888530 |
| dbSNP (classic) | rs793888530 |
| ClinGen | rs793888530 |
| ebi | rs793888530 |
| HLI | rs793888530 |
| Exac | rs793888530 |
| Gnomad | rs793888530 |
| Varsome | rs793888530 |
| LitVar | rs793888530 |
| Map | rs793888530 |
| PheGenI | rs793888530 |
| Biobank | rs793888530 |
| 1000 genomes | rs793888530 |
| hgdp | rs793888530 |
| ensembl | rs793888530 |
| geneview | rs793888530 |
| scholar | rs793888530 |
| rs793888530 | |
| pharmgkb | rs793888530 |
| gwascentral | rs793888530 |
| openSNP | rs793888530 |
| 23andMe | rs793888530 |
| SNPshot | rs793888530 |
| SNPdbe | rs793888530 |
| MSV3d | rs793888530 |
| GWAS Ctlg | rs793888530 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs793888530(T;T) |
| Alt | rs793888530(T;T) |
| Reference | Rs793888530(A;A) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | PURA |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.139493767A>T |
| CLNSRC | |
| CLNACC | RCV000172932.2, |
