rs193922717
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922717(A;A) |
Make rs193922717(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 42329448 |
Gene | STAT3 |
is a | snp |
is | mentioned by |
dbSNP | rs193922717 |
dbSNP (classic) | rs193922717 |
ClinGen | rs193922717 |
ebi | rs193922717 |
HLI | rs193922717 |
Exac | rs193922717 |
Gnomad | rs193922717 |
Varsome | rs193922717 |
LitVar | rs193922717 |
Map | rs193922717 |
PheGenI | rs193922717 |
Biobank | rs193922717 |
1000 genomes | rs193922717 |
hgdp | rs193922717 |
ensembl | rs193922717 |
geneview | rs193922717 |
scholar | rs193922717 |
rs193922717 | |
pharmgkb | rs193922717 |
gwascentral | rs193922717 |
openSNP | rs193922717 |
23andMe | rs193922717 |
SNPshot | rs193922717 |
SNPdbe | rs193922717 |
MSV3d | rs193922717 |
GWAS Ctlg | rs193922717 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922717(A;A) |
Alt | rs193922717(A;A) |
Reference | Rs193922717(G;G) |
Significance | Pathogenic |
Disease | Hyperimmunoglobulin E syndrome Autoimmune disease |
Variation | info |
Gene | STAT3 |
CLNDBN | Hyperimmunoglobulin E syndrome Autoimmune disease, multisystem, infantile-onset, 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.40481466C>T |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030464.1, RCV000210430.1, |