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rs397514722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514722(A;A)
Make rs397514722(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position1232294
GeneB3GALT6, SDF4
is asnp
is mentioned by
dbSNPrs397514722
ebirs397514722
HLIrs397514722
Exacrs397514722
Varsomers397514722
Maprs397514722
PheGenIrs397514722
hapmaprs397514722
1000 genomesrs397514722
hgdprs397514722
ensemblrs397514722
gopubmedrs397514722
geneviewrs397514722
scholarrs397514722
googlers397514722
pharmgkbrs397514722
gwascentralrs397514722
openSNPrs397514722
23andMers397514722
23andMe allrs397514722
SNP Nexus

SNPshotrs397514722
SNPdbers397514722
MSV3drs397514722
GWAS Ctlgrs397514722
Max Magnitude0
ClinVar
Risk rs397514722(A;A)
Alt rs397514722(A;A)
Reference rs397514722(G;G)
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.1167674C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054399.4,