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

rs587778812

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587778812(-;-)
Make rs587778812(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218812724
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778812
ebirs587778812
HLIrs587778812
Exacrs587778812
Varsomers587778812
Maprs587778812
PheGenIrs587778812
hapmaprs587778812
1000 genomesrs587778812
hgdprs587778812
ensemblrs587778812
gopubmedrs587778812
geneviewrs587778812
scholarrs587778812
googlers587778812
pharmgkbrs587778812
gwascentralrs587778812
openSNPrs587778812
23andMers587778812
23andMe allrs587778812
SNP Nexus

SNPshotrs587778812
SNPdbers587778812
MSV3drs587778812
GWAS Ctlgrs587778812
Max Magnitude0
ClinVar
Risk rs587778812(;)
Alt rs587778812(;)
Reference rs587778812(T;T)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677447delT
CLNSRC
CLNACC RCV000056149.1,