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rs267606728

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606728(A;A)
Make rs267606728(A;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40471623
GeneCHST14
is asnp
is mentioned by
dbSNPrs267606728
ebirs267606728
HLIrs267606728
Exacrs267606728
Varsomers267606728
Maprs267606728
PheGenIrs267606728
hapmaprs267606728
1000 genomesrs267606728
hgdprs267606728
ensemblrs267606728
gopubmedrs267606728
geneviewrs267606728
scholarrs267606728
googlers267606728
pharmgkbrs267606728
gwascentralrs267606728
openSNPrs267606728
23andMers267606728
23andMe allrs267606728
SNP Nexus

SNPshotrs267606728
SNPdbers267606728
MSV3drs267606728
GWAS Ctlgrs267606728
Max Magnitude0
ClinVar
Risk rs267606728(A;A)
Alt rs267606728(A;A)
Reference rs267606728(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene CHST14
CLNDBN Ehlers-Danlos syndrome, musculocontractural type
Reversed 0
HGVS NC_000015.9:g.40763822T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002428.4,