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rs587778784

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778784(G;T)
Make rs587778784(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814463
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778784
ebirs587778784
HLIrs587778784
Exacrs587778784
Varsomers587778784
Maprs587778784
PheGenIrs587778784
hapmaprs587778784
1000 genomesrs587778784
hgdprs587778784
ensemblrs587778784
gopubmedrs587778784
geneviewrs587778784
scholarrs587778784
googlers587778784
pharmgkbrs587778784
gwascentralrs587778784
openSNPrs587778784
23andMers587778784
23andMe allrs587778784
SNP Nexus

SNPshotrs587778784
SNPdbers587778784
MSV3drs587778784
GWAS Ctlgrs587778784
Max Magnitude0
ClinVar
Risk rs587778784(T;T)
Alt rs587778784(T;T)
Reference rs587778784(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679186G>T
CLNSRC
CLNACC RCV000056081.1,