rs587776713
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
(AGC;AGC) | 0 | common in clinvar |
(CT;CT) | 0 | common in clinvar |
Make rs587776713(-;-) |
Make rs587776713(-;CT) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 190978968 |
Gene | STAT1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776713 |
dbSNP (classic) | rs587776713 |
ClinGen | rs587776713 |
ebi | rs587776713 |
HLI | rs587776713 |
Exac | rs587776713 |
Gnomad | rs587776713 |
Varsome | rs587776713 |
LitVar | rs587776713 |
Map | rs587776713 |
PheGenI | rs587776713 |
Biobank | rs587776713 |
1000 genomes | rs587776713 |
hgdp | rs587776713 |
ensembl | rs587776713 |
geneview | rs587776713 |
scholar | rs587776713 |
rs587776713 | |
pharmgkb | rs587776713 |
gwascentral | rs587776713 |
openSNP | rs587776713 |
23andMe | rs587776713 |
SNPshot | rs587776713 |
SNPdbe | rs587776713 |
MSV3d | rs587776713 |
GWAS Ctlg | rs587776713 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776713(CT;CT) rs587776713(-;-) |
Alt | Rs587776713(CT;CT) rs587776713(-;-) |
Reference | Rs587776713(AG;AG) |
Significance | Pathogenic |
Disease | Mycobacterial and viral infections |
Variation | info |
Gene | STAT1 |
CLNDBN | Mycobacterial and viral infections, susceptibility to, autosomal recessive |
Reversed | 1 |
HGVS | NC_000002.11:g.191843694_191843695delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009611.3, |