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rs113994135

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994135(C;T)
Make rs113994135(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position42329643
GeneSTAT3
is asnp
is mentioned by
dbSNPrs113994135
ebirs113994135
HLIrs113994135
Exacrs113994135
Varsomers113994135
Maprs113994135
PheGenIrs113994135
hapmaprs113994135
1000 genomesrs113994135
hgdprs113994135
ensemblrs113994135
gopubmedrs113994135
geneviewrs113994135
scholarrs113994135
googlers113994135
pharmgkbrs113994135
gwascentralrs113994135
openSNPrs113994135
23andMers113994135
23andMe allrs113994135
SNP Nexus

SNPshotrs113994135
SNPdbers113994135
MSV3drs113994135
GWAS Ctlgrs113994135
Max Magnitude0
OMIM102582
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113994135(T;T)
Alt rs113994135(T;T)
Reference rs113994135(C;C)
Significance Pathogenic
Disease Hyperimmunoglobulin E syndrome
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome
Reversed 1
HGVS NC_000017.10:g.40481661G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019966.27,