Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852555

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852555(G;T)
Make rs137852555(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position634798
GeneSHOX
is asnp
is mentioned by
dbSNPrs137852555
dbSNP (classic)rs137852555
ClinGenrs137852555
ebirs137852555
HLIrs137852555
Exacrs137852555
Gnomadrs137852555
Varsomers137852555
LitVarrs137852555
Maprs137852555
PheGenIrs137852555
Biobankrs137852555
1000 genomesrs137852555
hgdprs137852555
ensemblrs137852555
geneviewrs137852555
scholarrs137852555
googlers137852555
pharmgkbrs137852555
gwascentralrs137852555
openSNPrs137852555
23andMers137852555
SNPshotrs137852555
SNPdbers137852555
MSV3drs137852555
GWAS Ctlgrs137852555
Max Magnitude0
OMIM312865
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852555(T;T)
Alt rs137852555(T;T)
Reference Rs137852555(G;G)
Significance Pathogenic
Disease Leri Weill dyschondrosteosis
Variation info
Gene SHOX
CLNDBN Leri Weill dyschondrosteosis
Reversed 0
HGVS NC_000023.10:g.595533G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010552.5,