rs760838030
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs760838030(C;T) |
Make rs760838030(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 48466995 |
Gene | TREX1 |
is a | snp |
is | mentioned by |
dbSNP | rs760838030 |
dbSNP (classic) | rs760838030 |
ClinGen | rs760838030 |
ebi | rs760838030 |
HLI | rs760838030 |
Exac | rs760838030 |
Gnomad | rs760838030 |
Varsome | rs760838030 |
LitVar | rs760838030 |
Map | rs760838030 |
PheGenI | rs760838030 |
Biobank | rs760838030 |
1000 genomes | rs760838030 |
hgdp | rs760838030 |
ensembl | rs760838030 |
geneview | rs760838030 |
scholar | rs760838030 |
rs760838030 | |
pharmgkb | rs760838030 |
gwascentral | rs760838030 |
openSNP | rs760838030 |
23andMe | rs760838030 |
SNPshot | rs760838030 |
SNPdbe | rs760838030 |
MSV3d | rs760838030 |
GWAS Ctlg | rs760838030 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760838030(T;T) |
Alt | rs760838030(T;T) |
Reference | Rs760838030(C;C) |
Significance | Probable-Pathogenic |
Disease | Aicardi Goutieres syndrome 1 |
Variation | info |
Gene | ATRIP TREX1 |
CLNDBN | Aicardi Goutieres syndrome 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.48508394C>T |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191136.1, |