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rs587778804

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778804(G;T)
Make rs587778804(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218812551
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778804
ebirs587778804
HLIrs587778804
Exacrs587778804
Varsomers587778804
Maprs587778804
PheGenIrs587778804
hapmaprs587778804
1000 genomesrs587778804
hgdprs587778804
ensemblrs587778804
gopubmedrs587778804
geneviewrs587778804
scholarrs587778804
googlers587778804
pharmgkbrs587778804
gwascentralrs587778804
openSNPrs587778804
23andMers587778804
23andMe allrs587778804
SNP Nexus

SNPshotrs587778804
SNPdbers587778804
MSV3drs587778804
GWAS Ctlgrs587778804
Max Magnitude0
ClinVar
Risk rs587778804(T;T)
Alt rs587778804(T;T)
Reference rs587778804(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677274G>T
CLNSRC
CLNACC RCV000056131.1,