rs76857106
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs76857106(A;A) |
| Make rs76857106(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 12806782 |
| Gene | RNASEH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76857106 |
| dbSNP (classic) | rs76857106 |
| ClinGen | rs76857106 |
| ebi | rs76857106 |
| HLI | rs76857106 |
| Exac | rs76857106 |
| Gnomad | rs76857106 |
| Varsome | rs76857106 |
| LitVar | rs76857106 |
| Map | rs76857106 |
| PheGenI | rs76857106 |
| Biobank | rs76857106 |
| 1000 genomes | rs76857106 |
| hgdp | rs76857106 |
| ensembl | rs76857106 |
| geneview | rs76857106 |
| scholar | rs76857106 |
| rs76857106 | |
| pharmgkb | rs76857106 |
| gwascentral | rs76857106 |
| openSNP | rs76857106 |
| 23andMe | rs76857106 |
| SNPshot | rs76857106 |
| SNPdbe | rs76857106 |
| MSV3d | rs76857106 |
| GWAS Ctlg | rs76857106 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs76857106(A;A) |
| Alt | rs76857106(A;A) |
| Reference | Rs76857106(G;G) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 4 |
| Variation | info |
| Gene | RNASEH2A |
| CLNDBN | Aicardi Goutieres syndrome 4 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.12917596G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004904.4, |
[PMID 16845400] Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.
