rs78408272
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs78408272(A;A) |
| Make rs78408272(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 48467257 |
| Gene | TREX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78408272 |
| dbSNP (classic) | rs78408272 |
| ClinGen | rs78408272 |
| ebi | rs78408272 |
| HLI | rs78408272 |
| Exac | rs78408272 |
| Gnomad | rs78408272 |
| Varsome | rs78408272 |
| LitVar | rs78408272 |
| Map | rs78408272 |
| PheGenI | rs78408272 |
| Biobank | rs78408272 |
| 1000 genomes | rs78408272 |
| hgdp | rs78408272 |
| ensembl | rs78408272 |
| geneview | rs78408272 |
| scholar | rs78408272 |
| rs78408272 | |
| pharmgkb | rs78408272 |
| gwascentral | rs78408272 |
| openSNP | rs78408272 |
| 23andMe | rs78408272 |
| SNPshot | rs78408272 |
| SNPdbe | rs78408272 |
| MSV3d | rs78408272 |
| GWAS Ctlg | rs78408272 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs78408272(A;A) |
| Alt | rs78408272(A;A) |
| Reference | Rs78408272(T;T) |
| Significance | Pathogenic |
| Disease | Aicardi Goutieres syndrome 1 |
| Variation | info |
| Gene | ATRIP TREX1 |
| CLNDBN | Aicardi Goutieres syndrome 1 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.48508656T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004400.4, |
[PMID 16845398] Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus.
