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rs587778785

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778785(A;A)
Make rs587778785(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814544
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778785
ebirs587778785
HLIrs587778785
Exacrs587778785
Varsomers587778785
Maprs587778785
PheGenIrs587778785
hapmaprs587778785
1000 genomesrs587778785
hgdprs587778785
ensemblrs587778785
gopubmedrs587778785
geneviewrs587778785
scholarrs587778785
googlers587778785
pharmgkbrs587778785
gwascentralrs587778785
openSNPrs587778785
23andMers587778785
23andMe allrs587778785
SNP Nexus

SNPshotrs587778785
SNPdbers587778785
MSV3drs587778785
GWAS Ctlgrs587778785
Max Magnitude0
ClinVar
Risk rs587778785(A;A)
Alt rs587778785(A;A)
Reference rs587778785(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679267G>A
CLNSRC
CLNACC RCV000056084.1,