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rs397514766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514766(C;T)
Make rs397514766(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42329621
GeneSTAT3
is asnp
is mentioned by
dbSNPrs397514766
ebirs397514766
HLIrs397514766
Exacrs397514766
Varsomers397514766
Maprs397514766
PheGenIrs397514766
hapmaprs397514766
1000 genomesrs397514766
hgdprs397514766
ensemblrs397514766
gopubmedrs397514766
geneviewrs397514766
scholarrs397514766
googlers397514766
pharmgkbrs397514766
gwascentralrs397514766
openSNPrs397514766
23andMers397514766
23andMe allrs397514766
SNP Nexus

SNPshotrs397514766
SNPdbers397514766
MSV3drs397514766
GWAS Ctlgrs397514766
Max Magnitude0
ClinVar
Risk rs397514766(T;T)
Alt rs397514766(T;T)
Reference rs397514766(C;C)
Significance Pathogenic
Disease Hyperimmunoglobulin E syndrome
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome
Reversed 1
HGVS NC_000017.10:g.40481639G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054835.27,