rs77834781
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs77834781(C;T) |
| Make rs77834781(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 65720101 |
| Gene | KAT5, RNASEH2C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77834781 |
| dbSNP (classic) | rs77834781 |
| ClinGen | rs77834781 |
| ebi | rs77834781 |
| HLI | rs77834781 |
| Exac | rs77834781 |
| Gnomad | rs77834781 |
| Varsome | rs77834781 |
| LitVar | rs77834781 |
| Map | rs77834781 |
| PheGenI | rs77834781 |
| Biobank | rs77834781 |
| 1000 genomes | rs77834781 |
| hgdp | rs77834781 |
| ensembl | rs77834781 |
| geneview | rs77834781 |
| scholar | rs77834781 |
| rs77834781 | |
| pharmgkb | rs77834781 |
| gwascentral | rs77834781 |
| openSNP | rs77834781 |
| 23andMe | rs77834781 |
| SNPshot | rs77834781 |
| SNPdbe | rs77834781 |
| MSV3d | rs77834781 |
| GWAS Ctlg | rs77834781 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77834781(T;T) |
| Alt | rs77834781(T;T) |
| Reference | Rs77834781(C;C) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 3 |
| Variation | info |
| Gene | RNASEH2C KAT5 |
| CLNDBN | Aicardi Goutieres syndrome 3 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.65487572G>A |
| CLNSRC | |
| CLNACC | |
