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rs72551316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72551316(C;T)
Make rs72551316(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218812650
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551316
ebirs72551316
HLIrs72551316
Exacrs72551316
Varsomers72551316
Maprs72551316
PheGenIrs72551316
hapmaprs72551316
1000 genomesrs72551316
hgdprs72551316
ensemblrs72551316
gopubmedrs72551316
geneviewrs72551316
scholarrs72551316
googlers72551316
pharmgkbrs72551316
gwascentralrs72551316
openSNPrs72551316
23andMers72551316
23andMe allrs72551316
SNP Nexus

SNPshotrs72551316
SNPdbers72551316
MSV3drs72551316
GWAS Ctlgrs72551316
Max Magnitude0


ClinVar
Risk rs72551316(T;T)
Alt rs72551316(T;T)
Reference rs72551316(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677373C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056140.1,