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rs397514720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514720(A;A)
Make rs397514720(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position1232478
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs397514720
ebirs397514720
HLIrs397514720
Exacrs397514720
Varsomers397514720
Maprs397514720
PheGenIrs397514720
hapmaprs397514720
1000 genomesrs397514720
hgdprs397514720
ensemblrs397514720
gopubmedrs397514720
geneviewrs397514720
scholarrs397514720
googlers397514720
pharmgkbrs397514720
gwascentralrs397514720
openSNPrs397514720
23andMers397514720
23andMe allrs397514720
SNP Nexus

SNPshotrs397514720
SNPdbers397514720
MSV3drs397514720
GWAS Ctlgrs397514720
Max Magnitude0
ClinVar
Risk rs397514720(A;A)
Alt rs397514720(A;A)
Reference rs397514720(G;G)
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.1167858C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054395.4,