rs77103971
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs77103971(C;T) |
| Make rs77103971(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 12810323 |
| Gene | RNASEH2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs77103971 |
| dbSNP (classic) | rs77103971 |
| ClinGen | rs77103971 |
| ebi | rs77103971 |
| HLI | rs77103971 |
| Exac | rs77103971 |
| Gnomad | rs77103971 |
| Varsome | rs77103971 |
| LitVar | rs77103971 |
| Map | rs77103971 |
| PheGenI | rs77103971 |
| Biobank | rs77103971 |
| 1000 genomes | rs77103971 |
| hgdp | rs77103971 |
| ensembl | rs77103971 |
| geneview | rs77103971 |
| scholar | rs77103971 |
| rs77103971 | |
| pharmgkb | rs77103971 |
| gwascentral | rs77103971 |
| openSNP | rs77103971 |
| 23andMe | rs77103971 |
| SNPshot | rs77103971 |
| SNPdbe | rs77103971 |
| MSV3d | rs77103971 |
| GWAS Ctlg | rs77103971 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs77103971(T;T) |
| Alt | rs77103971(T;T) |
| Reference | Rs77103971(C;C) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 4 |
| Variation | info |
| Gene | RNASEH2A |
| CLNDBN | Aicardi Goutieres syndrome 4 |
| Reversed | 0 |
| HGVS | NC_000019.9:g.12921137C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000056305.5, |
