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rs113994137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994137(A;A)
Make rs113994137(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position42329423
GeneSTAT3
is asnp
is mentioned by
dbSNPrs113994137
dbSNP (classic)rs113994137
ClinGenrs113994137
ebirs113994137
HLIrs113994137
Exacrs113994137
Gnomadrs113994137
Varsomers113994137
LitVarrs113994137
Maprs113994137
PheGenIrs113994137
Biobankrs113994137
1000 genomesrs113994137
hgdprs113994137
ensemblrs113994137
geneviewrs113994137
scholarrs113994137
googlers113994137
pharmgkbrs113994137
gwascentralrs113994137
openSNPrs113994137
23andMers113994137
SNPshotrs113994137
SNPdbers113994137
MSV3drs113994137
GWAS Ctlgrs113994137
Max Magnitude0
OMIM102582
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113994137(A;A)
Alt rs113994137(A;A)
Reference Rs113994137(G;G)
Significance Pathogenic
Disease Hyperimmunoglobulin E syndrome
Variation info
Gene STAT3
CLNDBN Hyperimmunoglobulin E syndrome
Reversed 1
HGVS NC_000017.10:g.40481441C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019968.26,