rs74876396
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (CAG;CAG) | 0 | common in clinvar |
| Make rs74876396(-;AGAGCTGGCTATGCTG) |
| Make rs74876396(AGAGCTGGCTATGCTG;AGAGCTGGCTATGCTG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 48467063 |
| Gene | TREX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74876396 |
| dbSNP (classic) | rs74876396 |
| ClinGen | rs74876396 |
| ebi | rs74876396 |
| HLI | rs74876396 |
| Exac | rs74876396 |
| Gnomad | rs74876396 |
| Varsome | rs74876396 |
| LitVar | rs74876396 |
| Map | rs74876396 |
| PheGenI | rs74876396 |
| Biobank | rs74876396 |
| 1000 genomes | rs74876396 |
| hgdp | rs74876396 |
| ensembl | rs74876396 |
| geneview | rs74876396 |
| scholar | rs74876396 |
| rs74876396 | |
| pharmgkb | rs74876396 |
| gwascentral | rs74876396 |
| openSNP | rs74876396 |
| 23andMe | rs74876396 |
| SNPshot | rs74876396 |
| SNPdbe | rs74876396 |
| MSV3d | rs74876396 |
| GWAS Ctlg | rs74876396 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs74876396(CCCCCTGCTCCAAGCA;CCCCCTGCTCCAAGCA) |
| Alt | rs74876396(CCCCCTGCTCCAAGCA;CCCCCTGCTCCAAGCA) |
| Reference | Rs74876396(-;-) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 1 |
| Variation | info |
| Gene | ATRIP TREX1 |
| CLNDBN | Aicardi Goutieres syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.48508447_48508462dup16 |
| CLNSRC | ClinVar |
| CLNACC | RCV000114326.2, |
