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rs397514724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514724(C;T)
Make rs397514724(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position1232927
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs397514724
ebirs397514724
HLIrs397514724
Exacrs397514724
Varsomers397514724
Maprs397514724
PheGenIrs397514724
hapmaprs397514724
1000 genomesrs397514724
hgdprs397514724
ensemblrs397514724
gopubmedrs397514724
geneviewrs397514724
scholarrs397514724
googlers397514724
pharmgkbrs397514724
gwascentralrs397514724
openSNPrs397514724
23andMers397514724
23andMe allrs397514724
SNP Nexus

SNPshotrs397514724
SNPdbers397514724
MSV3drs397514724
GWAS Ctlgrs397514724
Max Magnitude0
ClinVar
Risk rs397514724(T;T)
Alt rs397514724(T;T)
Reference rs397514724(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.1168307G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054402.5,