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rs137852553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852553(C;G)
Make rs137852553(G;G)
ReferenceGRCh38 38.1/141
ChromosomeY
Position641051
GeneSHOX
is asnp
is mentioned by
dbSNPrs137852553
ebirs137852553
HLIrs137852553
Exacrs137852553
Varsomers137852553
Maprs137852553
PheGenIrs137852553
hapmaprs137852553
1000 genomesrs137852553
hgdprs137852553
ensemblrs137852553
gopubmedrs137852553
geneviewrs137852553
scholarrs137852553
googlers137852553
pharmgkbrs137852553
gwascentralrs137852553
openSNPrs137852553
23andMers137852553
23andMe allrs137852553
SNP Nexus

SNPshotrs137852553
SNPdbers137852553
MSV3drs137852553
GWAS Ctlgrs137852553
Y Chromrs137852553
Max Magnitude0
OMIM312865
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852553(G,T;G,T)
Alt rs137852553(G,T;G,T)
Reference rs137852553(C;C)
Significance Pathogenic
Disease Leri Weill dyschondrosteosis
Variation info
Gene SHOX
CLNDBN Leri Weill dyschondrosteosis
Reversed 0
HGVS NC_000023.10:g.601786C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010548.2,