Have questions? Visit https://www.reddit.com/r/SNPedia

rs587778818

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778818(A;A)
Make rs587778818(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218809731
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778818
ebirs587778818
HLIrs587778818
Exacrs587778818
Varsomers587778818
Maprs587778818
PheGenIrs587778818
hapmaprs587778818
1000 genomesrs587778818
hgdprs587778818
ensemblrs587778818
gopubmedrs587778818
geneviewrs587778818
scholarrs587778818
googlers587778818
pharmgkbrs587778818
gwascentralrs587778818
openSNPrs587778818
23andMers587778818
23andMe allrs587778818
SNP Nexus

SNPshotrs587778818
SNPdbers587778818
MSV3drs587778818
GWAS Ctlgrs587778818
Max Magnitude0
ClinVar
Risk rs587778818(A;A)
Alt rs587778818(A;A)
Reference rs587778818(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674454G>A
CLNSRC
CLNACC RCV000056176.1,