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rs193922720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922720(A;A)
Make rs193922720(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42323112
GeneSTAT3
is asnp
is mentioned by
dbSNPrs193922720
dbSNP (classic)rs193922720
ClinGenrs193922720
ebirs193922720
HLIrs193922720
Exacrs193922720
Gnomadrs193922720
Varsomers193922720
LitVarrs193922720
Maprs193922720
PheGenIrs193922720
Biobankrs193922720
1000 genomesrs193922720
hgdprs193922720
ensemblrs193922720
geneviewrs193922720
scholarrs193922720
googlers193922720
pharmgkbrs193922720
gwascentralrs193922720
openSNPrs193922720
23andMers193922720
SNPshotrs193922720
SNPdbers193922720
MSV3drs193922720
GWAS Ctlgrs193922720
Max Magnitude0
ClinVar
Risk rs193922720(A;A)
Alt rs193922720(A;A)
Reference Rs193922720(G;G)
Significance Probable-Pathogenic
Disease Hyperimmunoglobulin E syndrome
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome
Reversed 1
HGVS NC_000017.10:g.40475130C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030469.1,