rs74876396
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(CAG;CAG) | 0 | common in clinvar |
Make rs74876396(-;AGAGCTGGCTATGCTG) |
Make rs74876396(AGAGCTGGCTATGCTG;AGAGCTGGCTATGCTG) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 48467063 |
Gene | TREX1 |
is a | snp |
is | mentioned by |
dbSNP | rs74876396 |
dbSNP (classic) | rs74876396 |
ClinGen | rs74876396 |
ebi | rs74876396 |
HLI | rs74876396 |
Exac | rs74876396 |
Gnomad | rs74876396 |
Varsome | rs74876396 |
LitVar | rs74876396 |
Map | rs74876396 |
PheGenI | rs74876396 |
Biobank | rs74876396 |
1000 genomes | rs74876396 |
hgdp | rs74876396 |
ensembl | rs74876396 |
geneview | rs74876396 |
scholar | rs74876396 |
rs74876396 | |
pharmgkb | rs74876396 |
gwascentral | rs74876396 |
openSNP | rs74876396 |
23andMe | rs74876396 |
SNPshot | rs74876396 |
SNPdbe | rs74876396 |
MSV3d | rs74876396 |
GWAS Ctlg | rs74876396 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74876396(CCCCCTGCTCCAAGCA;CCCCCTGCTCCAAGCA) |
Alt | rs74876396(CCCCCTGCTCCAAGCA;CCCCCTGCTCCAAGCA) |
Reference | Rs74876396(-;-) |
Significance | Pathogenic |
Disease | Aicardi Goutieres syndrome 1 |
Variation | info |
Gene | ATRIP TREX1 |
CLNDBN | Aicardi Goutieres syndrome 1 |
Reversed | 0 |
HGVS | NC_000003.11:g.48508447_48508462dup16 |
CLNSRC | ClinVar |
CLNACC | RCV000114326.2, |