rs78705193
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs78705193(-;CG) |
| Make rs78705193(CG;CG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 12813162 |
| Gene | RNASEH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78705193 |
| dbSNP (classic) | rs78705193 |
| ClinGen | rs78705193 |
| ebi | rs78705193 |
| HLI | rs78705193 |
| Exac | rs78705193 |
| Gnomad | rs78705193 |
| Varsome | rs78705193 |
| LitVar | rs78705193 |
| Map | rs78705193 |
| PheGenI | rs78705193 |
| Biobank | rs78705193 |
| 1000 genomes | rs78705193 |
| hgdp | rs78705193 |
| ensembl | rs78705193 |
| geneview | rs78705193 |
| scholar | rs78705193 |
| rs78705193 | |
| pharmgkb | rs78705193 |
| gwascentral | rs78705193 |
| openSNP | rs78705193 |
| 23andMe | rs78705193 |
| SNPshot | rs78705193 |
| SNPdbe | rs78705193 |
| MSV3d | rs78705193 |
| GWAS Ctlg | rs78705193 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78705193(GC;GC) |
| Alt | rs78705193(GC;GC) |
| Reference | Rs78705193(-;-) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 4 |
| Variation | info |
| Gene | RNASEH2A |
| CLNDBN | Aicardi Goutieres syndrome 4 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.12923975_12923976dupGC |
| CLNSRC | ClinVar |
| CLNACC | RCV000114340.2, |
