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rs72551314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72551314(C;T)
Make rs72551314(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218812250
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551314
ebirs72551314
HLIrs72551314
Exacrs72551314
Varsomers72551314
Maprs72551314
PheGenIrs72551314
hapmaprs72551314
1000 genomesrs72551314
hgdprs72551314
ensemblrs72551314
gopubmedrs72551314
geneviewrs72551314
scholarrs72551314
googlers72551314
pharmgkbrs72551314
gwascentralrs72551314
openSNPrs72551314
23andMers72551314
23andMe allrs72551314
SNP Nexus

SNPshotrs72551314
SNPdbers72551314
MSV3drs72551314
GWAS Ctlgrs72551314
Max Magnitude0


ClinVar
Risk rs72551314(T;T)
Alt rs72551314(T;T)
Reference rs72551314(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219676973C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056118.1,