rs781522558
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs781522558(C;C) |
Make rs781522558(C;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 56346844 |
Gene | STAT2 |
is a | snp |
is | mentioned by |
dbSNP | rs781522558 |
dbSNP (classic) | rs781522558 |
ClinGen | rs781522558 |
ebi | rs781522558 |
HLI | rs781522558 |
Exac | rs781522558 |
Gnomad | rs781522558 |
Varsome | rs781522558 |
LitVar | rs781522558 |
Map | rs781522558 |
PheGenI | rs781522558 |
Biobank | rs781522558 |
1000 genomes | rs781522558 |
hgdp | rs781522558 |
ensembl | rs781522558 |
geneview | rs781522558 |
scholar | rs781522558 |
rs781522558 | |
pharmgkb | rs781522558 |
gwascentral | rs781522558 |
openSNP | rs781522558 |
23andMe | rs781522558 |
SNPshot | rs781522558 |
SNPdbe | rs781522558 |
MSV3d | rs781522558 |
GWAS Ctlg | rs781522558 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs781522558(C;C) rs781522558(T;T) |
Alt | rs781522558(C;C) rs781522558(T;T) |
Reference | Rs781522558(G;G) |
Significance | Pathogenic |
Disease | Immunodeficiency 44 |
Variation | info |
Gene | STAT2 |
CLNDBN | Immunodeficiency 44 |
Reversed | 0 |
HGVS | NC_000012.11:g.56740628G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202385.1, |