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rs199946685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
(T;T) 0 common in clinvar
Make rs199946685(-;TGT)
Make rs199946685(TGT;TGT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position624389
GeneSHOX
is asnp
is mentioned by
dbSNPrs199946685
dbSNP (classic)rs199946685
ClinGenrs199946685
ebirs199946685
HLIrs199946685
Exacrs199946685
Gnomadrs199946685
Varsomers199946685
LitVarrs199946685
Maprs199946685
PheGenIrs199946685
Biobankrs199946685
1000 genomesrs199946685
hgdprs199946685
ensemblrs199946685
geneviewrs199946685
scholarrs199946685
googlers199946685
pharmgkbrs199946685
gwascentralrs199946685
openSNPrs199946685
23andMers199946685
SNPshotrs199946685
SNPdbers199946685
MSV3drs199946685
GWAS Ctlgrs199946685
Max Magnitude0
ClinVar
Risk rs199946685(G;G) rs199946685(TGT;TGT)
Alt rs199946685(G;G) rs199946685(TGT;TGT)
Reference Rs199946685(-;-)
Significance Pathogenic
Disease Short stature
Variation info
Gene SHOX
CLNDBN Short stature, idiopathic, X-linked
Reversed 0
HGVS NC_000023.10:g.585124_585125insTGT
CLNSRC
CLNACC RCV000190325.1,