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

rs587778795

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778795(A;A)
Make rs587778795(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218809754
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778795
ebirs587778795
HLIrs587778795
Exacrs587778795
Varsomers587778795
Maprs587778795
PheGenIrs587778795
hapmaprs587778795
1000 genomesrs587778795
hgdprs587778795
ensemblrs587778795
gopubmedrs587778795
geneviewrs587778795
scholarrs587778795
googlers587778795
pharmgkbrs587778795
gwascentralrs587778795
openSNPrs587778795
23andMers587778795
23andMe allrs587778795
SNP Nexus

SNPshotrs587778795
SNPdbers587778795
MSV3drs587778795
GWAS Ctlgrs587778795
Max Magnitude0
ClinVar
Risk rs587778795(A;A)
Alt rs587778795(A;A)
Reference rs587778795(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674477G>A
CLNSRC
CLNACC RCV000056113.1,