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rs387906534

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906534(-;-)
Make rs387906534(-;C)
Make rs387906534(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position88856343
GeneACAN
is asnp
is mentioned by
dbSNPrs387906534
ebirs387906534
HLIrs387906534
Exacrs387906534
Varsomers387906534
Maprs387906534
PheGenIrs387906534
hapmaprs387906534
1000 genomesrs387906534
hgdprs387906534
ensemblrs387906534
gopubmedrs387906534
geneviewrs387906534
scholarrs387906534
googlers387906534
pharmgkbrs387906534
gwascentralrs387906534
openSNPrs387906534
23andMers387906534
23andMe allrs387906534
SNP Nexus

SNPshotrs387906534
SNPdbers387906534
MSV3drs387906534
GWAS Ctlgrs387906534
Max Magnitude0
ClinVar
Risk rs387906534(C;C)
Alt rs387906534(C;C)
Reference rs387906534(;)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia
Variation info
Gene ACAN
CLNDBN Spondyloepiphyseal dysplasia, kimberley type
Reversed 0
HGVS NC_000015.9:g.89399574dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015374.25,