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rs113994138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTG;GTG) 0 common in clinvar
Make rs113994138(-;-)
Make rs113994138(-;GTG)
ReferenceGRCh38 38.1/141
Chromosome17
Position42325038
GeneSTAT3
is asnp
is mentioned by
dbSNPrs113994138
dbSNP (classic)rs113994138
ClinGenrs113994138
ebirs113994138
HLIrs113994138
Exacrs113994138
Gnomadrs113994138
Varsomers113994138
LitVarrs113994138
Maprs113994138
PheGenIrs113994138
Biobankrs113994138
1000 genomesrs113994138
hgdprs113994138
ensemblrs113994138
geneviewrs113994138
scholarrs113994138
googlers113994138
pharmgkbrs113994138
gwascentralrs113994138
openSNPrs113994138
23andMers113994138
SNPshotrs113994138
SNPdbers113994138
MSV3drs113994138
GWAS Ctlgrs113994138
Max Magnitude0
OMIM102582
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994138(-;-)
Alt rs113994138(-;-)
Reference Rs113994138(GTG;GTG)
Significance Pathogenic
Disease Hyperimmunoglobulin E syndrome not provided
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome not provided
Reversed 1
HGVS NC_000017.10:g.40477056_40477058delCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019965.27, RCV000255324.1,