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rs397514717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514717(A;A)
Make rs397514717(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position1232972
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs397514717
ebirs397514717
HLIrs397514717
Exacrs397514717
Varsomers397514717
Maprs397514717
PheGenIrs397514717
hapmaprs397514717
1000 genomesrs397514717
hgdprs397514717
ensemblrs397514717
gopubmedrs397514717
geneviewrs397514717
scholarrs397514717
googlers397514717
pharmgkbrs397514717
gwascentralrs397514717
openSNPrs397514717
23andMers397514717
23andMe allrs397514717
SNP Nexus

SNPshotrs397514717
SNPdbers397514717
MSV3drs397514717
GWAS Ctlgrs397514717
Max Magnitude0
ClinVar
Risk rs397514717(A;A)
Alt rs397514717(A;A)
Reference rs397514717(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.1168352C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054391.4,