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rs397514718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514718(C;T)
Make rs397514718(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position1232744
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs397514718
ebirs397514718
HLIrs397514718
Exacrs397514718
Varsomers397514718
Maprs397514718
PheGenIrs397514718
hapmaprs397514718
1000 genomesrs397514718
hgdprs397514718
ensemblrs397514718
gopubmedrs397514718
geneviewrs397514718
scholarrs397514718
googlers397514718
pharmgkbrs397514718
gwascentralrs397514718
openSNPrs397514718
23andMers397514718
23andMe allrs397514718
SNP Nexus

SNPshotrs397514718
SNPdbers397514718
MSV3drs397514718
GWAS Ctlgrs397514718
Max Magnitude0
ClinVar
Risk rs397514718(T;T)
Alt rs397514718(T;T)
Reference rs397514718(C;C)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia with joint laxity
Variation info
Gene B3GALT6 SDF4
CLNDBN Spondyloepimetaphyseal dysplasia with joint laxity
Reversed 1
HGVS NC_000001.10:g.1168124G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054392.4,