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rs1057518701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518701(A;A)
Make rs1057518701(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position640879
GeneSHOX
is asnp
is mentioned by
dbSNPrs1057518701
dbSNP (classic)rs1057518701
ClinGenrs1057518701
ebirs1057518701
HLIrs1057518701
Exacrs1057518701
Gnomadrs1057518701
Varsomers1057518701
LitVarrs1057518701
Maprs1057518701
PheGenIrs1057518701
Biobankrs1057518701
1000 genomesrs1057518701
hgdprs1057518701
ensemblrs1057518701
geneviewrs1057518701
scholarrs1057518701
googlers1057518701
pharmgkbrs1057518701
gwascentralrs1057518701
openSNPrs1057518701
23andMers1057518701
SNPshotrs1057518701
SNPdbers1057518701
MSV3drs1057518701
GWAS Ctlgrs1057518701
Max Magnitude0
ClinVar
Risk rs1057518701(A;A)
Alt rs1057518701(A;A)
Reference Rs1057518701(G;G)
Significance Pathogenic
Disease Short stature
Variation info
Gene SHOX
CLNDBN Short stature, idiopathic, X-linked
Reversed 0
HGVS NC_000023.10:g.601614G>A
CLNSRC
CLNACC RCV000415164.1,