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rs397518432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397518432(-;-)
Make rs397518432(-;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40471358
GeneCHST14
is asnp
is mentioned by
dbSNPrs397518432
ebirs397518432
HLIrs397518432
Exacrs397518432
Varsomers397518432
Maprs397518432
PheGenIrs397518432
hapmaprs397518432
1000 genomesrs397518432
hgdprs397518432
ensemblrs397518432
gopubmedrs397518432
geneviewrs397518432
scholarrs397518432
googlers397518432
pharmgkbrs397518432
gwascentralrs397518432
openSNPrs397518432
23andMers397518432
23andMe allrs397518432
SNP Nexus

SNPshotrs397518432
SNPdbers397518432
MSV3drs397518432
GWAS Ctlgrs397518432
Max Magnitude0
ClinVar
Risk rs397518432(;)
Alt rs397518432(;)
Reference rs397518432(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.40763557delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002426.4,