rs76642637
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs76642637(-;-) |
Make rs76642637(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 48467155 |
Gene | TREX1 |
is a | snp |
is | mentioned by |
dbSNP | rs76642637 |
dbSNP (classic) | rs76642637 |
ClinGen | rs76642637 |
ebi | rs76642637 |
HLI | rs76642637 |
Exac | rs76642637 |
Gnomad | rs76642637 |
Varsome | rs76642637 |
LitVar | rs76642637 |
Map | rs76642637 |
PheGenI | rs76642637 |
Biobank | rs76642637 |
1000 genomes | rs76642637 |
hgdp | rs76642637 |
ensembl | rs76642637 |
geneview | rs76642637 |
scholar | rs76642637 |
rs76642637 | |
pharmgkb | rs76642637 |
gwascentral | rs76642637 |
openSNP | rs76642637 |
23andMe | rs76642637 |
SNPshot | rs76642637 |
SNPdbe | rs76642637 |
MSV3d | rs76642637 |
GWAS Ctlg | rs76642637 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs76642637(-;-) |
Alt | rs76642637(-;-) |
Reference | Rs76642637(G;G) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 1 |
Variation | info |
Gene | ATRIP TREX1 |
CLNDBN | Aicardi Goutieres syndrome 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.48508554delG |
CLNSRC | ClinVar |
CLNACC | RCV000114328.3, |