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rs587778815

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587778815(-;-)
Make rs587778815(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218812942
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778815
ebirs587778815
HLIrs587778815
Exacrs587778815
Varsomers587778815
Maprs587778815
PheGenIrs587778815
hapmaprs587778815
1000 genomesrs587778815
hgdprs587778815
ensemblrs587778815
gopubmedrs587778815
geneviewrs587778815
scholarrs587778815
googlers587778815
pharmgkbrs587778815
gwascentralrs587778815
openSNPrs587778815
23andMers587778815
23andMe allrs587778815
SNP Nexus

SNPshotrs587778815
SNPdbers587778815
MSV3drs587778815
GWAS Ctlgrs587778815
Max Magnitude0
ClinVar
Risk rs587778815(;)
Alt rs587778815(;)
Reference rs587778815(A;A)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677665delA
CLNSRC
CLNACC RCV000056156.1,