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rs397514461

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514461(C;C)
Make rs397514461(C;G)
ReferenceGRCh38 38.1/141
ChromosomeY
Position640842
GeneSHOX
is asnp
is mentioned by
dbSNPrs397514461
ebirs397514461
HLIrs397514461
Exacrs397514461
Varsomers397514461
Maprs397514461
PheGenIrs397514461
hapmaprs397514461
1000 genomesrs397514461
hgdprs397514461
ensemblrs397514461
gopubmedrs397514461
geneviewrs397514461
scholarrs397514461
googlers397514461
pharmgkbrs397514461
gwascentralrs397514461
openSNPrs397514461
23andMers397514461
23andMe allrs397514461
SNP Nexus

SNPshotrs397514461
SNPdbers397514461
MSV3drs397514461
GWAS Ctlgrs397514461
Y Chromrs397514461
Max Magnitude0
ClinVar
Risk rs397514461(C;C)
Alt rs397514461(C;C)
Reference rs397514461(G;G)
Significance Pathogenic
Disease Leri Weill dyschondrosteosis Langer mesomelic dysplasia syndrome
Variation info
Gene SHOX
CLNDBN Leri Weill dyschondrosteosis Langer mesomelic dysplasia syndrome
Reversed 0
HGVS NC_000024.9:g.551577G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022887.3, RCV000022888.3,