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rs778921118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs778921118(C;C)
Make rs778921118(C;G)
ReferenceGRCh38.p7 38.3/149
ChromosomeX
Position640862
GeneSHOX
is asnp
is mentioned by
dbSNPrs778921118
dbSNP (classic)rs778921118
ClinGenrs778921118
ebirs778921118
HLIrs778921118
Exacrs778921118
Gnomadrs778921118
Varsomers778921118
LitVarrs778921118
Maprs778921118
PheGenIrs778921118
Biobankrs778921118
1000 genomesrs778921118
hgdprs778921118
ensemblrs778921118
geneviewrs778921118
scholarrs778921118
googlers778921118
pharmgkbrs778921118
gwascentralrs778921118
openSNPrs778921118
23andMers778921118
SNPshotrs778921118
SNPdbers778921118
MSV3drs778921118
GWAS Ctlgrs778921118
Max Magnitude0
ClinVar
Risk rs778921118(C;C) rs778921118(T;T)
Alt rs778921118(C;C) rs778921118(T;T)
Reference Rs778921118(G;G)
Significance Pathogenic
Disease Short stature
Variation info
Gene SHOX
CLNDBN Short stature, idiopathic, X-linked
Reversed 0
HGVS NC_000023.10:g.601597G\x3d; NC_000023.10:g.601597G>C
CLNSRC
CLNACC RCV000256218.1, RCV000256224.1,