rs79564863
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs79564863(A;A) |
| Make rs79564863(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 50927470 |
| Gene | RNASEH2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79564863 |
| dbSNP (classic) | rs79564863 |
| ClinGen | rs79564863 |
| ebi | rs79564863 |
| HLI | rs79564863 |
| Exac | rs79564863 |
| Gnomad | rs79564863 |
| Varsome | rs79564863 |
| LitVar | rs79564863 |
| Map | rs79564863 |
| PheGenI | rs79564863 |
| Biobank | rs79564863 |
| 1000 genomes | rs79564863 |
| hgdp | rs79564863 |
| ensembl | rs79564863 |
| geneview | rs79564863 |
| scholar | rs79564863 |
| rs79564863 | |
| pharmgkb | rs79564863 |
| gwascentral | rs79564863 |
| openSNP | rs79564863 |
| 23andMe | rs79564863 |
| SNPshot | rs79564863 |
| SNPdbe | rs79564863 |
| MSV3d | rs79564863 |
| GWAS Ctlg | rs79564863 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs79564863(A;A) |
| Alt | rs79564863(A;A) |
| Reference | Rs79564863(C;C) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 2 |
| Variation | info |
| Gene | RNASEH2B |
| CLNDBN | Aicardi Goutieres syndrome 2 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.51501606C>A |
| CLNSRC | |
| CLNACC | |
