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rs587778793

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778793(-;-)
Make rs587778793(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218809676
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778793
ebirs587778793
HLIrs587778793
Exacrs587778793
Varsomers587778793
Maprs587778793
PheGenIrs587778793
hapmaprs587778793
1000 genomesrs587778793
hgdprs587778793
ensemblrs587778793
gopubmedrs587778793
geneviewrs587778793
scholarrs587778793
googlers587778793
pharmgkbrs587778793
gwascentralrs587778793
openSNPrs587778793
23andMers587778793
23andMe allrs587778793
SNP Nexus

SNPshotrs587778793
SNPdbers587778793
MSV3drs587778793
GWAS Ctlgrs587778793
Max Magnitude0
ClinVar
Risk rs587778793(;)
Alt rs587778793(;)
Reference rs587778793(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674399delC
CLNSRC
CLNACC RCV000056106.1,