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rs587778808

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778808(A;A)
Make rs587778808(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218812657
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778808
ebirs587778808
HLIrs587778808
Exacrs587778808
Varsomers587778808
Maprs587778808
PheGenIrs587778808
hapmaprs587778808
1000 genomesrs587778808
hgdprs587778808
ensemblrs587778808
gopubmedrs587778808
geneviewrs587778808
scholarrs587778808
googlers587778808
pharmgkbrs587778808
gwascentralrs587778808
openSNPrs587778808
23andMers587778808
23andMe allrs587778808
SNP Nexus

SNPshotrs587778808
SNPdbers587778808
MSV3drs587778808
GWAS Ctlgrs587778808
Max Magnitude0
ClinVar
Risk rs587778808(A;A)
Alt rs587778808(A;A)
Reference rs587778808(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677380C>A
CLNSRC
CLNACC RCV000056141.1,