Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514719(C;C)
Make rs397514719(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position1232471
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs397514719
ebirs397514719
HLIrs397514719
Exacrs397514719
Varsomers397514719
Maprs397514719
PheGenIrs397514719
hapmaprs397514719
1000 genomesrs397514719
hgdprs397514719
ensemblrs397514719
gopubmedrs397514719
geneviewrs397514719
scholarrs397514719
googlers397514719
pharmgkbrs397514719
gwascentralrs397514719
openSNPrs397514719
23andMers397514719
23andMe allrs397514719
SNP Nexus

SNPshotrs397514719
SNPdbers397514719
MSV3drs397514719
GWAS Ctlgrs397514719
Max Magnitude0
ClinVar
Risk rs397514719(C;C)
Alt rs397514719(C;C)
Reference rs397514719(T;T)
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.1167851A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054394.4,