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rs267606729

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606729(C;T)
Make rs267606729(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40472055
GeneCHST14
is asnp
is mentioned by
dbSNPrs267606729
ebirs267606729
HLIrs267606729
Exacrs267606729
Varsomers267606729
Maprs267606729
PheGenIrs267606729
hapmaprs267606729
1000 genomesrs267606729
hgdprs267606729
ensemblrs267606729
gopubmedrs267606729
geneviewrs267606729
scholarrs267606729
googlers267606729
pharmgkbrs267606729
gwascentralrs267606729
openSNPrs267606729
23andMers267606729
23andMe allrs267606729
SNP Nexus

SNPshotrs267606729
SNPdbers267606729
MSV3drs267606729
GWAS Ctlgrs267606729
Max Magnitude0
ClinVar
Risk rs267606729(T;T)
Alt rs267606729(T;T)
Reference rs267606729(C;C)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene CHST14
CLNDBN Ehlers-Danlos syndrome, musculocontractural type
Reversed 0
HGVS NC_000015.9:g.40764254C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002430.3,