rs78846775
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs78846775(G;T) |
| Make rs78846775(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 48467253 |
| Gene | TREX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78846775 |
| dbSNP (classic) | rs78846775 |
| ClinGen | rs78846775 |
| ebi | rs78846775 |
| HLI | rs78846775 |
| Exac | rs78846775 |
| Gnomad | rs78846775 |
| Varsome | rs78846775 |
| LitVar | rs78846775 |
| Map | rs78846775 |
| PheGenI | rs78846775 |
| Biobank | rs78846775 |
| 1000 genomes | rs78846775 |
| hgdp | rs78846775 |
| ensembl | rs78846775 |
| geneview | rs78846775 |
| scholar | rs78846775 |
| rs78846775 | |
| pharmgkb | rs78846775 |
| gwascentral | rs78846775 |
| openSNP | rs78846775 |
| 23andMe | rs78846775 |
| SNPshot | rs78846775 |
| SNPdbe | rs78846775 |
| MSV3d | rs78846775 |
| GWAS Ctlg | rs78846775 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78846775(A;A) rs78846775(T;T) |
| Alt | rs78846775(A;A) rs78846775(T;T) |
| Reference | Rs78846775(G;G) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 1 Aicardi Goutieres syndrome 1 |
| Variation | info |
| Gene | ATRIP TREX1 |
| CLNDBN | Aicardi Goutieres syndrome 1, autosomal dominant Aicardi Goutieres syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.48508652G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004402.3, RCV000114331.2, |
