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rs72551312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72551312(C;T)
Make rs72551312(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218809730
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551312
ebirs72551312
HLIrs72551312
Exacrs72551312
Varsomers72551312
Maprs72551312
PheGenIrs72551312
hapmaprs72551312
1000 genomesrs72551312
hgdprs72551312
ensemblrs72551312
gopubmedrs72551312
geneviewrs72551312
scholarrs72551312
googlers72551312
pharmgkbrs72551312
gwascentralrs72551312
openSNPrs72551312
23andMers72551312
23andMe allrs72551312
SNP Nexus

SNPshotrs72551312
SNPdbers72551312
MSV3drs72551312
GWAS Ctlgrs72551312
Max Magnitude0
ClinVar
Risk rs72551312(T;T)
Alt rs72551312(T;T)
Reference rs72551312(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674453C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056112.1,