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rs193922717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922717(A;A)
Make rs193922717(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42329448
GeneSTAT3
is asnp
is mentioned by
dbSNPrs193922717
ebirs193922717
HLIrs193922717
Exacrs193922717
Varsomers193922717
Maprs193922717
PheGenIrs193922717
hapmaprs193922717
1000 genomesrs193922717
hgdprs193922717
ensemblrs193922717
gopubmedrs193922717
geneviewrs193922717
scholarrs193922717
googlers193922717
pharmgkbrs193922717
gwascentralrs193922717
openSNPrs193922717
23andMers193922717
23andMe allrs193922717
SNP Nexus

SNPshotrs193922717
SNPdbers193922717
MSV3drs193922717
GWAS Ctlgrs193922717
Max Magnitude0
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,