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rs587778778

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778778(A;A)
Make rs587778778(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814187
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778778
ebirs587778778
HLIrs587778778
Exacrs587778778
Varsomers587778778
Maprs587778778
PheGenIrs587778778
hapmaprs587778778
1000 genomesrs587778778
hgdprs587778778
ensemblrs587778778
gopubmedrs587778778
geneviewrs587778778
scholarrs587778778
googlers587778778
pharmgkbrs587778778
gwascentralrs587778778
openSNPrs587778778
23andMers587778778
23andMe allrs587778778
SNP Nexus

SNPshotrs587778778
SNPdbers587778778
MSV3drs587778778
GWAS Ctlgrs587778778
Max Magnitude0
ClinVar
Risk rs587778778(A;A)
Alt rs587778778(A;A)
Reference rs587778778(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219678910G>A
CLNSRC
CLNACC RCV000056074.1,