rs78635798
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs78635798(C;T) |
| Make rs78635798(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 65720385 |
| Gene | RNASEH2C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78635798 |
| dbSNP (classic) | rs78635798 |
| ClinGen | rs78635798 |
| ebi | rs78635798 |
| HLI | rs78635798 |
| Exac | rs78635798 |
| Gnomad | rs78635798 |
| Varsome | rs78635798 |
| LitVar | rs78635798 |
| Map | rs78635798 |
| PheGenI | rs78635798 |
| Biobank | rs78635798 |
| 1000 genomes | rs78635798 |
| hgdp | rs78635798 |
| ensembl | rs78635798 |
| geneview | rs78635798 |
| scholar | rs78635798 |
| rs78635798 | |
| pharmgkb | rs78635798 |
| gwascentral | rs78635798 |
| openSNP | rs78635798 |
| 23andMe | rs78635798 |
| SNPshot | rs78635798 |
| SNPdbe | rs78635798 |
| MSV3d | rs78635798 |
| GWAS Ctlg | rs78635798 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78635798(T;T) |
| Alt | rs78635798(T;T) |
| Reference | Rs78635798(C;C) |
| Significance | Other |
| Disease | Aicardi Goutieres syndrome 3 not provided |
| Variation | info |
| Gene | RNASEH2C |
| CLNDBN | Aicardi Goutieres syndrome 3 not provided |
| Reversed | 1 |
| HGVS | NC_000011.9:g.65487856G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001322.5, RCV000414153.1, |
[PMID 16845400] Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.
