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rs193922716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922716(C;T)
Make rs193922716(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42333719
GeneSTAT3
is asnp
is mentioned by
dbSNPrs193922716
ebirs193922716
HLIrs193922716
Exacrs193922716
Varsomers193922716
Maprs193922716
PheGenIrs193922716
hapmaprs193922716
1000 genomesrs193922716
hgdprs193922716
ensemblrs193922716
gopubmedrs193922716
geneviewrs193922716
scholarrs193922716
googlers193922716
pharmgkbrs193922716
gwascentralrs193922716
openSNPrs193922716
23andMers193922716
23andMe allrs193922716
SNP Nexus

SNPshotrs193922716
SNPdbers193922716
MSV3drs193922716
GWAS Ctlgrs193922716
Max Magnitude0
ClinVar
Risk rs193922716(T;T)
Alt rs193922716(T;T)
Reference rs193922716(C;C)
Significance Probable-Pathogenic
Disease Hyperimmunoglobulin E syndrome
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome
Reversed 1
HGVS NC_000017.10:g.40485737G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030463.1,


[PMID 18602572OA-icon.png] Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.


[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.