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rs113994139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994139(A;A)
Make rs113994139(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42322474
GeneSTAT3
is asnp
is mentioned by
dbSNPrs113994139
ebirs113994139
HLIrs113994139
Exacrs113994139
Varsomers113994139
Maprs113994139
PheGenIrs113994139
hapmaprs113994139
1000 genomesrs113994139
hgdprs113994139
ensemblrs113994139
gopubmedrs113994139
geneviewrs113994139
scholarrs113994139
googlers113994139
pharmgkbrs113994139
gwascentralrs113994139
openSNPrs113994139
23andMers113994139
23andMe allrs113994139
SNP Nexus

SNPshotrs113994139
SNPdbers113994139
MSV3drs113994139
GWAS Ctlgrs113994139
Max Magnitude0
OMIM102582
Desc
Variant0006
Relatedalso
ClinVar
Risk rs113994139(A;A)
Alt rs113994139(A;A)
Reference rs113994139(G;G)
Significance Pathogenic
Disease Hyperimmunoglobulin E syndrome
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome
Reversed 1
HGVS NC_000017.10:g.40474492C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019970.27,