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rs193922721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922721(A;G)
Make rs193922721(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42322413
GeneSTAT3
is asnp
is mentioned by
dbSNPrs193922721
ebirs193922721
HLIrs193922721
Exacrs193922721
Varsomers193922721
Maprs193922721
PheGenIrs193922721
hapmaprs193922721
1000 genomesrs193922721
hgdprs193922721
ensemblrs193922721
gopubmedrs193922721
geneviewrs193922721
scholarrs193922721
googlers193922721
pharmgkbrs193922721
gwascentralrs193922721
openSNPrs193922721
23andMers193922721
23andMe allrs193922721
SNP Nexus

SNPshotrs193922721
SNPdbers193922721
MSV3drs193922721
GWAS Ctlgrs193922721
Max Magnitude0
ClinVar
Risk rs193922721(G;G)
Alt rs193922721(G;G)
Reference rs193922721(A;A)
Significance Probable-Pathogenic
Disease Hyperimmunoglobulin E syndrome
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome
Reversed 1
HGVS NC_000017.10:g.40474431T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000030470.1,


[PMID 19577] Effect of a second solubilizate on the partition coefficient of drugs in micellar solution and their permeation rate across an artificial membrane.


[PMID 17881745] STAT3 mutations in the hyper-IgE syndrome.


[PMID 18706697] Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.


[PMID 18978467] Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3.


[PMID 20159255OA-icon.png] Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.


[PMID 21107604] Destructive pulmonary staphylococcal infection in a boy with hyper-IgE syndrome: a novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene (p.Y657S).