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rs587778782

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778782(G;T)
Make rs587778782(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814417
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778782
ebirs587778782
HLIrs587778782
Exacrs587778782
Varsomers587778782
Maprs587778782
PheGenIrs587778782
hapmaprs587778782
1000 genomesrs587778782
hgdprs587778782
ensemblrs587778782
gopubmedrs587778782
geneviewrs587778782
scholarrs587778782
googlers587778782
pharmgkbrs587778782
gwascentralrs587778782
openSNPrs587778782
23andMers587778782
23andMe allrs587778782
SNP Nexus

SNPshotrs587778782
SNPdbers587778782
MSV3drs587778782
GWAS Ctlgrs587778782
Max Magnitude0
ClinVar
Risk rs587778782(T;T)
Alt rs587778782(T;T)
Reference rs587778782(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679140G>T
CLNSRC
CLNACC RCV000056079.1,