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rs72551315

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72551315(C;T)
Make rs72551315(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218812596
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551315
ebirs72551315
HLIrs72551315
Exacrs72551315
Varsomers72551315
Maprs72551315
PheGenIrs72551315
hapmaprs72551315
1000 genomesrs72551315
hgdprs72551315
ensemblrs72551315
gopubmedrs72551315
geneviewrs72551315
scholarrs72551315
googlers72551315
pharmgkbrs72551315
gwascentralrs72551315
openSNPrs72551315
23andMers72551315
23andMe allrs72551315
SNP Nexus

SNPshotrs72551315
SNPdbers72551315
MSV3drs72551315
GWAS Ctlgrs72551315
Max Magnitude0


ClinVar
Risk rs72551315(T;T)
Alt rs72551315(T;T)
Reference rs72551315(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677319C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056136.1,