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rs137852557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852557(C;T)
Make rs137852557(T;T)
ReferenceGRCh38 38.1/141
ChromosomeY
Position640836
GeneSHOX
is asnp
is mentioned by
dbSNPrs137852557
ebirs137852557
HLIrs137852557
Exacrs137852557
Varsomers137852557
Maprs137852557
PheGenIrs137852557
hapmaprs137852557
1000 genomesrs137852557
hgdprs137852557
ensemblrs137852557
gopubmedrs137852557
geneviewrs137852557
scholarrs137852557
googlers137852557
pharmgkbrs137852557
gwascentralrs137852557
openSNPrs137852557
23andMers137852557
23andMe allrs137852557
SNP Nexus

SNPshotrs137852557
SNPdbers137852557
MSV3drs137852557
GWAS Ctlgrs137852557
Y Chromrs137852557
Max Magnitude0
OMIM312865
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852557(T;T)
Alt rs137852557(T;T)
Reference rs137852557(C;C)
Significance Pathogenic
Disease Langer mesomelic dysplasia syndrome Leri Weill dyschondrosteosis
Variation info
Gene SHOX
CLNDBN Langer mesomelic dysplasia syndrome Leri Weill dyschondrosteosis
Reversed 0
HGVS NC_000023.10:g.601571C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010555.4, RCV000010556.3,