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rs121913568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913568(A;A)
Make rs121913568(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position88872038
GeneACAN
is asnp
is mentioned by
dbSNPrs121913568
ebirs121913568
HLIrs121913568
Exacrs121913568
Varsomers121913568
Maprs121913568
PheGenIrs121913568
hapmaprs121913568
1000 genomesrs121913568
hgdprs121913568
ensemblrs121913568
gopubmedrs121913568
geneviewrs121913568
scholarrs121913568
googlers121913568
pharmgkbrs121913568
gwascentralrs121913568
openSNPrs121913568
23andMers121913568
23andMe allrs121913568
SNP Nexus

SNPshotrs121913568
SNPdbers121913568
MSV3drs121913568
GWAS Ctlgrs121913568
Max Magnitude0
OMIM155760
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913568(A;A)
Alt rs121913568(A;A)
Reference rs121913568(G;G)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia
Variation info
Gene ACAN
CLNDBN Spondyloepimetaphyseal dysplasia, Aggrecan type
Reversed 0
HGVS NC_000015.9:g.89415269G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015375.21,