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rs397514723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514723(C;G)
Make rs397514723(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position1232897
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs397514723
ebirs397514723
HLIrs397514723
Exacrs397514723
Varsomers397514723
Maprs397514723
PheGenIrs397514723
hapmaprs397514723
1000 genomesrs397514723
hgdprs397514723
ensemblrs397514723
gopubmedrs397514723
geneviewrs397514723
scholarrs397514723
googlers397514723
pharmgkbrs397514723
gwascentralrs397514723
openSNPrs397514723
23andMers397514723
23andMe allrs397514723
SNP Nexus

SNPshotrs397514723
SNPdbers397514723
MSV3drs397514723
GWAS Ctlgrs397514723
Max Magnitude0
ClinVar
Risk rs397514723(G;G)
Alt rs397514723(G;G)
Reference rs397514723(C;C)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia with joint laxity
Variation info
Gene B3GALT6 SDF4
CLNDBN Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
Reversed 1
HGVS NC_000001.10:g.1168277G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000054401.6,