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rs113313554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113313554(A;A)
Make rs113313554(A;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position624523
GeneSHOX
is asnp
is mentioned by
dbSNPrs113313554
dbSNP (classic)rs113313554
ClinGenrs113313554
ebirs113313554
HLIrs113313554
Exacrs113313554
Gnomadrs113313554
Varsomers113313554
LitVarrs113313554
Maprs113313554
PheGenIrs113313554
Biobankrs113313554
1000 genomesrs113313554
hgdprs113313554
ensemblrs113313554
geneviewrs113313554
scholarrs113313554
googlers113313554
pharmgkbrs113313554
gwascentralrs113313554
openSNPrs113313554
23andMers113313554
SNPshotrs113313554
SNPdbers113313554
MSV3drs113313554
GWAS Ctlgrs113313554
Max Magnitude0
ClinVar
Risk rs113313554(A;A) rs113313554(T;T)
Alt rs113313554(A;A) rs113313554(T;T)
Reference Rs113313554(C;C)
Significance Pathogenic
Disease Short stature
Variation info
Gene SHOX
CLNDBN Short stature, idiopathic, X-linked
Reversed 0
HGVS NC_000023.10:g.585258C>A
CLNSRC
CLNACC RCV000190324.1,