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rs587778807

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778807(-;-)
Make rs587778807(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218782255
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778807
ebirs587778807
HLIrs587778807
Exacrs587778807
Varsomers587778807
Maprs587778807
PheGenIrs587778807
hapmaprs587778807
1000 genomesrs587778807
hgdprs587778807
ensemblrs587778807
gopubmedrs587778807
geneviewrs587778807
scholarrs587778807
googlers587778807
pharmgkbrs587778807
gwascentralrs587778807
openSNPrs587778807
23andMers587778807
23andMe allrs587778807
SNP Nexus

SNPshotrs587778807
SNPdbers587778807
MSV3drs587778807
GWAS Ctlgrs587778807
Max Magnitude0
ClinVar
Risk rs587778807(;)
Alt rs587778807(;)
Reference rs587778807(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219646978delG
CLNSRC
CLNACC RCV000056139.1,