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rs397514462

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514462(A;A)
Make rs397514462(A;C)
ReferenceGRCh38 38.1/141
ChromosomeY
Position640843
GeneSHOX
is asnp
is mentioned by
dbSNPrs397514462
ebirs397514462
HLIrs397514462
Exacrs397514462
Varsomers397514462
Maprs397514462
PheGenIrs397514462
hapmaprs397514462
1000 genomesrs397514462
hgdprs397514462
ensemblrs397514462
gopubmedrs397514462
geneviewrs397514462
scholarrs397514462
googlers397514462
pharmgkbrs397514462
gwascentralrs397514462
openSNPrs397514462
23andMers397514462
23andMe allrs397514462
SNP Nexus

SNPshotrs397514462
SNPdbers397514462
MSV3drs397514462
GWAS Ctlgrs397514462
Y Chromrs397514462
Max Magnitude0
ClinVar
Risk rs397514462(A;A)
Alt rs397514462(A;A)
Reference rs397514462(C;C)
Significance Pathogenic
Disease Leri Weill dyschondrosteosis
Variation info
Gene SHOX
CLNDBN Leri Weill dyschondrosteosis
Reversed 0
HGVS NC_000023.10:g.601578C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022889.4,