rs74689946
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(GG;GG) | 0 | common in clinvar |
Make rs74689946(-;GG) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 48466868 |
Gene | TREX1 |
is a | snp |
is | mentioned by |
dbSNP | rs74689946 |
dbSNP (classic) | rs74689946 |
ClinGen | rs74689946 |
ebi | rs74689946 |
HLI | rs74689946 |
Exac | rs74689946 |
Gnomad | rs74689946 |
Varsome | rs74689946 |
LitVar | rs74689946 |
Map | rs74689946 |
PheGenI | rs74689946 |
Biobank | rs74689946 |
1000 genomes | rs74689946 |
hgdp | rs74689946 |
ensembl | rs74689946 |
geneview | rs74689946 |
scholar | rs74689946 |
rs74689946 | |
pharmgkb | rs74689946 |
gwascentral | rs74689946 |
openSNP | rs74689946 |
23andMe | rs74689946 |
SNPshot | rs74689946 |
SNPdbe | rs74689946 |
MSV3d | rs74689946 |
GWAS Ctlg | rs74689946 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74689946(TG;TG) |
Alt | rs74689946(TG;TG) |
Reference | Rs74689946(-;-) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 1 |
Variation | info |
Gene | ATRIP TREX1 |
CLNDBN | Aicardi Goutieres syndrome 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.48508266_48508267dupTG |
CLNSRC | ClinVar |
CLNACC | RCV000114323.2, |