rs80087649
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80087649(G;T) |
| Make rs80087649(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 50935000 |
| Gene | RNASEH2B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80087649 |
| dbSNP (classic) | rs80087649 |
| ClinGen | rs80087649 |
| ebi | rs80087649 |
| HLI | rs80087649 |
| Exac | rs80087649 |
| Gnomad | rs80087649 |
| Varsome | rs80087649 |
| LitVar | rs80087649 |
| Map | rs80087649 |
| PheGenI | rs80087649 |
| Biobank | rs80087649 |
| 1000 genomes | rs80087649 |
| hgdp | rs80087649 |
| ensembl | rs80087649 |
| geneview | rs80087649 |
| scholar | rs80087649 |
| rs80087649 | |
| pharmgkb | rs80087649 |
| gwascentral | rs80087649 |
| openSNP | rs80087649 |
| 23andMe | rs80087649 |
| SNPshot | rs80087649 |
| SNPdbe | rs80087649 |
| MSV3d | rs80087649 |
| GWAS Ctlg | rs80087649 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80087649(T;T) |
| Alt | rs80087649(T;T) |
| Reference | Rs80087649(G;G) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 2 |
| Variation | info |
| Gene | RNASEH2B |
| CLNDBN | Aicardi Goutieres syndrome 2 |
| Reversed | 0 |
| HGVS | NC_000013.10:g.51509136G>T |
| CLNSRC | |
| CLNACC | |
