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rs111549748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111549748(C;C)
Make rs111549748(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position624528
GeneSHOX
is asnp
is mentioned by
dbSNPrs111549748
dbSNP (classic)rs111549748
ClinGenrs111549748
ebirs111549748
HLIrs111549748
Exacrs111549748
Gnomadrs111549748
Varsomers111549748
LitVarrs111549748
Maprs111549748
PheGenIrs111549748
Biobankrs111549748
1000 genomesrs111549748
hgdprs111549748
ensemblrs111549748
geneviewrs111549748
scholarrs111549748
googlers111549748
pharmgkbrs111549748
gwascentralrs111549748
openSNPrs111549748
23andMers111549748
SNPshotrs111549748
SNPdbers111549748
MSV3drs111549748
GWAS Ctlgrs111549748
Max Magnitude0
ClinVar
Risk rs111549748(C;C)
Alt rs111549748(C;C)
Reference Rs111549748(G;G)
Significance Pathogenic
Disease Short stature
Variation info
Gene SHOX
CLNDBN Short stature, idiopathic, X-linked
Reversed 0
HGVS NC_000023.10:g.585263G>C
CLNSRC
CLNACC RCV000190323.1,