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rs587778800

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778800(G;T)
Make rs587778800(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218812358
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778800
ebirs587778800
HLIrs587778800
Exacrs587778800
Varsomers587778800
Maprs587778800
PheGenIrs587778800
hapmaprs587778800
1000 genomesrs587778800
hgdprs587778800
ensemblrs587778800
gopubmedrs587778800
geneviewrs587778800
scholarrs587778800
googlers587778800
pharmgkbrs587778800
gwascentralrs587778800
openSNPrs587778800
23andMers587778800
23andMe allrs587778800
SNP Nexus

SNPshotrs587778800
SNPdbers587778800
MSV3drs587778800
GWAS Ctlgrs587778800
Max Magnitude0
ClinVar
Risk rs587778800(T;T)
Alt rs587778800(T;T)
Reference rs587778800(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677081G>T
CLNSRC
CLNACC RCV000056123.1,