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rs397514706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514706(C;C)
Make rs397514706(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40472034
GeneCHST14
is asnp
is mentioned by
dbSNPrs397514706
ebirs397514706
HLIrs397514706
Exacrs397514706
Varsomers397514706
Maprs397514706
PheGenIrs397514706
hapmaprs397514706
1000 genomesrs397514706
hgdprs397514706
ensemblrs397514706
gopubmedrs397514706
geneviewrs397514706
scholarrs397514706
googlers397514706
pharmgkbrs397514706
gwascentralrs397514706
openSNPrs397514706
23andMers397514706
23andMe allrs397514706
SNP Nexus

SNPshotrs397514706
SNPdbers397514706
MSV3drs397514706
GWAS Ctlgrs397514706
Max Magnitude0
ClinVar
Risk rs397514706(C;C)
Alt rs397514706(C;C)
Reference rs397514706(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene CHST14
CLNDBN Ehlers-Danlos syndrome, musculocontractural type
Reversed 0
HGVS NC_000015.9:g.40764233G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043688.3,