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

rs587778796

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778796(G;T)
Make rs587778796(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218809756
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778796
ebirs587778796
HLIrs587778796
Exacrs587778796
Varsomers587778796
Maprs587778796
PheGenIrs587778796
hapmaprs587778796
1000 genomesrs587778796
hgdprs587778796
ensemblrs587778796
gopubmedrs587778796
geneviewrs587778796
scholarrs587778796
googlers587778796
pharmgkbrs587778796
gwascentralrs587778796
openSNPrs587778796
23andMers587778796
23andMe allrs587778796
SNP Nexus

SNPshotrs587778796
SNPdbers587778796
MSV3drs587778796
GWAS Ctlgrs587778796
Max Magnitude0
ClinVar
Risk rs587778796(T;T)
Alt rs587778796(T;T)
Reference rs587778796(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674479G>T
CLNSRC
CLNACC RCV000056114.1,