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rs137852556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852556(C;T)
Make rs137852556(T;T)
ReferenceGRCh38 38.1/141
ChromosomeY
Position640851
GeneSHOX
is asnp
is mentioned by
dbSNPrs137852556
ebirs137852556
HLIrs137852556
Exacrs137852556
Varsomers137852556
Maprs137852556
PheGenIrs137852556
hapmaprs137852556
1000 genomesrs137852556
hgdprs137852556
ensemblrs137852556
gopubmedrs137852556
geneviewrs137852556
scholarrs137852556
googlers137852556
pharmgkbrs137852556
gwascentralrs137852556
openSNPrs137852556
23andMers137852556
23andMe allrs137852556
SNP Nexus

SNPshotrs137852556
SNPdbers137852556
MSV3drs137852556
GWAS Ctlgrs137852556
Y Chromrs137852556
Max Magnitude0
OMIM312865
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852556(T;T)
Alt rs137852556(T;T)
Reference rs137852556(C;C)
Significance Pathogenic
Disease Leri Weill dyschondrosteosis
Variation info
Gene SHOX
CLNDBN Leri Weill dyschondrosteosis
Reversed 0
HGVS NC_000023.10:g.601586C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010554.2,