rs606231142
From SNPedia
Merged into | rs74556809 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231142(-;ATG) |
Make rs606231142(ATG;ATG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 48467256 |
Gene | TREX1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231142 |
dbSNP (classic) | rs606231142 |
ClinGen | rs606231142 |
ebi | rs606231142 |
HLI | rs606231142 |
Exac | rs606231142 |
Gnomad | rs606231142 |
Varsome | rs606231142 |
LitVar | rs606231142 |
Map | rs606231142 |
PheGenI | rs606231142 |
Biobank | rs606231142 |
1000 genomes | rs606231142 |
hgdp | rs606231142 |
ensembl | rs606231142 |
geneview | rs606231142 |
scholar | rs606231142 |
rs606231142 | |
pharmgkb | rs606231142 |
gwascentral | rs606231142 |
openSNP | rs606231142 |
23andMe | rs606231142 |
SNPshot | rs606231142 |
SNPdbe | rs606231142 |
MSV3d | rs606231142 |
GWAS Ctlg | rs606231142 |
Status | Merged into rs74556809 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231142(TGA;TGA) |
Alt | rs606231142(TGA;TGA) |
Reference | Rs606231142(;) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 1 |
Variation | info |
Gene | ATRIP TREX1 |
CLNDBN | Aicardi Goutieres syndrome 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.48508653_48508655dupATG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004399.4, |