rs606231142
From SNPedia
| Merged into | rs74556809 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs606231142(-;ATG) |
| Make rs606231142(ATG;ATG) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 48467256 |
| Gene | TREX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs606231142 |
| dbSNP (classic) | rs606231142 |
| ClinGen | rs606231142 |
| ebi | rs606231142 |
| HLI | rs606231142 |
| Exac | rs606231142 |
| Gnomad | rs606231142 |
| Varsome | rs606231142 |
| LitVar | rs606231142 |
| Map | rs606231142 |
| PheGenI | rs606231142 |
| Biobank | rs606231142 |
| 1000 genomes | rs606231142 |
| hgdp | rs606231142 |
| ensembl | rs606231142 |
| geneview | rs606231142 |
| scholar | rs606231142 |
| rs606231142 | |
| pharmgkb | rs606231142 |
| gwascentral | rs606231142 |
| openSNP | rs606231142 |
| 23andMe | rs606231142 |
| SNPshot | rs606231142 |
| SNPdbe | rs606231142 |
| MSV3d | rs606231142 |
| GWAS Ctlg | rs606231142 |
| Status | Merged into rs74556809 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs606231142(TGA;TGA) |
| Alt | rs606231142(TGA;TGA) |
| Reference | Rs606231142(;) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 1 |
| Variation | info |
| Gene | ATRIP TREX1 |
| CLNDBN | Aicardi Goutieres syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.48508653_48508655dupATG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004399.4, |
