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rs587778780

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778780(C;G)
Make rs587778780(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814397
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778780
ebirs587778780
HLIrs587778780
Exacrs587778780
Varsomers587778780
Maprs587778780
PheGenIrs587778780
hapmaprs587778780
1000 genomesrs587778780
hgdprs587778780
ensemblrs587778780
gopubmedrs587778780
geneviewrs587778780
scholarrs587778780
googlers587778780
pharmgkbrs587778780
gwascentralrs587778780
openSNPrs587778780
23andMers587778780
23andMe allrs587778780
SNP Nexus

SNPshotrs587778780
SNPdbers587778780
MSV3drs587778780
GWAS Ctlgrs587778780
Max Magnitude0
ClinVar
Risk rs587778780(G;G)
Alt rs587778780(G;G)
Reference rs587778780(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679120C>G
CLNSRC
CLNACC RCV000056076.1,