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rs72551317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72551317(A;G)
Make rs72551317(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position218812681
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551317
ebirs72551317
HLIrs72551317
Exacrs72551317
Varsomers72551317
Maprs72551317
PheGenIrs72551317
hapmaprs72551317
1000 genomesrs72551317
hgdprs72551317
ensemblrs72551317
gopubmedrs72551317
geneviewrs72551317
scholarrs72551317
googlers72551317
pharmgkbrs72551317
gwascentralrs72551317
openSNPrs72551317
23andMers72551317
23andMe allrs72551317
SNP Nexus

SNPshotrs72551317
SNPdbers72551317
MSV3drs72551317
GWAS Ctlgrs72551317
Max Magnitude0


ClinVar
Risk rs72551317(G;G)
Alt rs72551317(G;G)
Reference rs72551317(A;A)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677404A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000056144.1,