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rs267606730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606730(A;T)
Make rs267606730(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40471418
GeneCHST14
is asnp
is mentioned by
dbSNPrs267606730
ebirs267606730
HLIrs267606730
Exacrs267606730
Varsomers267606730
Maprs267606730
PheGenIrs267606730
hapmaprs267606730
1000 genomesrs267606730
hgdprs267606730
ensemblrs267606730
gopubmedrs267606730
geneviewrs267606730
scholarrs267606730
googlers267606730
pharmgkbrs267606730
gwascentralrs267606730
openSNPrs267606730
23andMers267606730
23andMe allrs267606730
SNP Nexus

SNPshotrs267606730
SNPdbers267606730
MSV3drs267606730
GWAS Ctlgrs267606730
Max Magnitude0
ClinVar
Risk rs267606730(T;T)
Alt rs267606730(T;T)
Reference rs267606730(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene CHST14
CLNDBN Ehlers-Danlos syndrome, musculocontractural type
Reversed 0
HGVS NC_000015.9:g.40763617A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002431.3,