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rs267606731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606731(C;C)
Make rs267606731(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40472079
GeneCHST14
is asnp
is mentioned by
dbSNPrs267606731
ebirs267606731
HLIrs267606731
Exacrs267606731
Varsomers267606731
Maprs267606731
PheGenIrs267606731
hapmaprs267606731
1000 genomesrs267606731
hgdprs267606731
ensemblrs267606731
gopubmedrs267606731
geneviewrs267606731
scholarrs267606731
googlers267606731
pharmgkbrs267606731
gwascentralrs267606731
openSNPrs267606731
23andMers267606731
23andMe allrs267606731
SNP Nexus

SNPshotrs267606731
SNPdbers267606731
MSV3drs267606731
GWAS Ctlgrs267606731
Max Magnitude0
ClinVar
Risk rs267606731(C;C)
Alt rs267606731(C;C)
Reference rs267606731(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.40764278G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002432.3,