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rs137852559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852559(C;C)
Make rs137852559(C;T)
ReferenceGRCh38 38.1/141
ChromosomeY
Position644634
GeneSHOX
is asnp
is mentioned by
dbSNPrs137852559
ebirs137852559
HLIrs137852559
Exacrs137852559
Varsomers137852559
Maprs137852559
PheGenIrs137852559
hapmaprs137852559
1000 genomesrs137852559
hgdprs137852559
ensemblrs137852559
gopubmedrs137852559
geneviewrs137852559
scholarrs137852559
googlers137852559
pharmgkbrs137852559
gwascentralrs137852559
openSNPrs137852559
23andMers137852559
23andMe allrs137852559
SNP Nexus

SNPshotrs137852559
SNPdbers137852559
MSV3drs137852559
GWAS Ctlgrs137852559
Y Chromrs137852559
Max Magnitude0
OMIM312865
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137852559(C;C)
Alt rs137852559(C;C)
Reference rs137852559(T;T)
Significance Pathogenic
Disease Leri Weill dyschondrosteosis
Variation info
Gene SHOX
CLNDBN Leri Weill dyschondrosteosis
Reversed 0
HGVS NC_000023.10:g.605369T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010560.3,