rs78948846
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(GTG;GTG) | 0 | common in clinvar |
Make rs78948846(-;TGGA) |
Make rs78948846(TGGA;TGGA) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 48467283 |
Gene | TREX1 |
is a | snp |
is | mentioned by |
dbSNP | rs78948846 |
dbSNP (classic) | rs78948846 |
ClinGen | rs78948846 |
ebi | rs78948846 |
HLI | rs78948846 |
Exac | rs78948846 |
Gnomad | rs78948846 |
Varsome | rs78948846 |
LitVar | rs78948846 |
Map | rs78948846 |
PheGenI | rs78948846 |
Biobank | rs78948846 |
1000 genomes | rs78948846 |
hgdp | rs78948846 |
ensembl | rs78948846 |
geneview | rs78948846 |
scholar | rs78948846 |
rs78948846 | |
pharmgkb | rs78948846 |
gwascentral | rs78948846 |
openSNP | rs78948846 |
23andMe | rs78948846 |
SNPshot | rs78948846 |
SNPdbe | rs78948846 |
MSV3d | rs78948846 |
GWAS Ctlg | rs78948846 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78948846(CAGT;CAGT) rs78948846(GTCA;GTCA) |
Alt | rs78948846(CAGT;CAGT) rs78948846(GTCA;GTCA) |
Reference | Rs78948846(-;-) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 1 |
Variation | info |
Gene | ATRIP TREX1 |
CLNDBN | Aicardi Goutieres syndrome 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.48508679_48508682dupCAGT |
CLNSRC | ClinVar |
CLNACC | RCV000114333.2, |