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rs397514721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514721(A;T)
Make rs397514721(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position1233203
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs397514721
ebirs397514721
HLIrs397514721
Exacrs397514721
Varsomers397514721
Maprs397514721
PheGenIrs397514721
hapmaprs397514721
1000 genomesrs397514721
hgdprs397514721
ensemblrs397514721
gopubmedrs397514721
geneviewrs397514721
scholarrs397514721
googlers397514721
pharmgkbrs397514721
gwascentralrs397514721
openSNPrs397514721
23andMers397514721
23andMe allrs397514721
SNP Nexus

SNPshotrs397514721
SNPdbers397514721
MSV3drs397514721
GWAS Ctlgrs397514721
Max Magnitude0
ClinVar
Risk rs397514721(T;T)
Alt rs397514721(T;T)
Reference rs397514721(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene B3GALT6 SDF4
CLNDBN Ehlers-Danlos syndrome, progeroid type, 2
Reversed 1
HGVS NC_000001.10:g.1168583T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054397.5,