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rs113994136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs113994136(A;A)
Make rs113994136(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42329642
GeneSTAT3
is asnp
is mentioned by
dbSNPrs113994136
dbSNP (classic)rs113994136
ClinGenrs113994136
ebirs113994136
HLIrs113994136
Exacrs113994136
Gnomadrs113994136
Varsomers113994136
LitVarrs113994136
Maprs113994136
PheGenIrs113994136
Biobankrs113994136
1000 genomesrs113994136
hgdprs113994136
ensemblrs113994136
geneviewrs113994136
scholarrs113994136
googlers113994136
pharmgkbrs113994136
gwascentralrs113994136
openSNPrs113994136
23andMers113994136
SNPshotrs113994136
SNPdbers113994136
MSV3drs113994136
GWAS Ctlgrs113994136
Max Magnitude0
OMIM102582
Desc
Variant0003
Relatedalso
ClinVar
Risk rs113994136(A;A) rs113994136(T;T)
Alt rs113994136(A;A) rs113994136(T;T)
Reference Rs113994136(G;G)
Significance Pathogenic
Disease Hyperimmunoglobulin E syndrome
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome
Reversed 1
HGVS NC_000017.10:g.40481660C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019967.26,