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rs193922722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922722(C;C)
Make rs193922722(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42317192
GeneSTAT3
is asnp
is mentioned by
dbSNPrs193922722
dbSNP (classic)rs193922722
ClinGenrs193922722
ebirs193922722
HLIrs193922722
Exacrs193922722
Gnomadrs193922722
Varsomers193922722
LitVarrs193922722
Maprs193922722
PheGenIrs193922722
Biobankrs193922722
1000 genomesrs193922722
hgdprs193922722
ensemblrs193922722
geneviewrs193922722
scholarrs193922722
googlers193922722
pharmgkbrs193922722
gwascentralrs193922722
openSNPrs193922722
23andMers193922722
SNPshotrs193922722
SNPdbers193922722
MSV3drs193922722
GWAS Ctlgrs193922722
Max Magnitude0
ClinVar
Risk rs193922722(C;C)
Alt rs193922722(C;C)
Reference Rs193922722(T;T)
Significance Probable-Pathogenic
Disease Hyperimmunoglobulin E syndrome
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome
Reversed 1
HGVS NC_000017.10:g.40469210A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000030471.1,