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rs587778781

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778781(C;G)
Make rs587778781(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814404
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778781
ebirs587778781
HLIrs587778781
Exacrs587778781
Varsomers587778781
Maprs587778781
PheGenIrs587778781
hapmaprs587778781
1000 genomesrs587778781
hgdprs587778781
ensemblrs587778781
gopubmedrs587778781
geneviewrs587778781
scholarrs587778781
googlers587778781
pharmgkbrs587778781
gwascentralrs587778781
openSNPrs587778781
23andMers587778781
23andMe allrs587778781
SNP Nexus

SNPshotrs587778781
SNPdbers587778781
MSV3drs587778781
GWAS Ctlgrs587778781
Max Magnitude0
ClinVar
Risk rs587778781(G;G)
Alt rs587778781(G;G)
Reference rs587778781(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679127C>G
CLNSRC
CLNACC RCV000056077.1,