rs78218009
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs78218009(C;T) |
| Make rs78218009(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 48467145 |
| Gene | TREX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78218009 |
| dbSNP (classic) | rs78218009 |
| ClinGen | rs78218009 |
| ebi | rs78218009 |
| HLI | rs78218009 |
| Exac | rs78218009 |
| Gnomad | rs78218009 |
| Varsome | rs78218009 |
| LitVar | rs78218009 |
| Map | rs78218009 |
| PheGenI | rs78218009 |
| Biobank | rs78218009 |
| 1000 genomes | rs78218009 |
| hgdp | rs78218009 |
| ensembl | rs78218009 |
| geneview | rs78218009 |
| scholar | rs78218009 |
| rs78218009 | |
| pharmgkb | rs78218009 |
| gwascentral | rs78218009 |
| openSNP | rs78218009 |
| 23andMe | rs78218009 |
| SNPshot | rs78218009 |
| SNPdbe | rs78218009 |
| MSV3d | rs78218009 |
| GWAS Ctlg | rs78218009 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78218009(T;T) |
| Alt | rs78218009(T;T) |
| Reference | Rs78218009(C;C) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 1 not provided |
| Variation | info |
| Gene | ATRIP TREX1 |
| CLNDBN | Aicardi Goutieres syndrome 1 not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.48508544C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004398.5, RCV000378411.1, |
[PMID 16845398] Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus.
