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rs137852558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852558(G;T)
Make rs137852558(T;T)
ReferenceGRCh38 38.1/141
ChromosomeY
Position634644
GeneSHOX
is asnp
is mentioned by
dbSNPrs137852558
ebirs137852558
HLIrs137852558
Exacrs137852558
Varsomers137852558
Maprs137852558
PheGenIrs137852558
hapmaprs137852558
1000 genomesrs137852558
hgdprs137852558
ensemblrs137852558
gopubmedrs137852558
geneviewrs137852558
scholarrs137852558
googlers137852558
pharmgkbrs137852558
gwascentralrs137852558
openSNPrs137852558
23andMers137852558
23andMe allrs137852558
SNP Nexus

SNPshotrs137852558
SNPdbers137852558
MSV3drs137852558
GWAS Ctlgrs137852558
Y Chromrs137852558
Max Magnitude0
OMIM312865
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137852558(T;T)
Alt rs137852558(T;T)
Reference rs137852558(G;G)
Significance Pathogenic
Disease Leri Weill dyschondrosteosis
Variation info
Gene SHOX
CLNDBN Leri Weill dyschondrosteosis
Reversed 0
HGVS NC_000023.10:g.595379G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010559.4,