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

rs587778787

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778787(C;T)
Make rs587778787(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814683
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778787
ebirs587778787
HLIrs587778787
Exacrs587778787
Varsomers587778787
Maprs587778787
PheGenIrs587778787
hapmaprs587778787
1000 genomesrs587778787
hgdprs587778787
ensemblrs587778787
gopubmedrs587778787
geneviewrs587778787
scholarrs587778787
googlers587778787
pharmgkbrs587778787
gwascentralrs587778787
openSNPrs587778787
23andMers587778787
23andMe allrs587778787
SNP Nexus

SNPshotrs587778787
SNPdbers587778787
MSV3drs587778787
GWAS Ctlgrs587778787
Max Magnitude0
ClinVar
Risk rs587778787(T;T)
Alt rs587778787(T;T)
Reference rs587778787(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679406C>T
CLNSRC
CLNACC RCV000056090.1,