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rs72551320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72551320(A;G)
Make rs72551320(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position218814064
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551320
ebirs72551320
HLIrs72551320
Exacrs72551320
Varsomers72551320
Maprs72551320
PheGenIrs72551320
hapmaprs72551320
1000 genomesrs72551320
hgdprs72551320
ensemblrs72551320
gopubmedrs72551320
geneviewrs72551320
scholarrs72551320
googlers72551320
pharmgkbrs72551320
gwascentralrs72551320
openSNPrs72551320
23andMers72551320
23andMe allrs72551320
SNP Nexus

SNPshotrs72551320
SNPdbers72551320
MSV3drs72551320
GWAS Ctlgrs72551320
Max Magnitude0


ClinVar
Risk rs72551320(G;G)
Alt rs72551320(G;G)
Reference rs72551320(A;A)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219678787A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000056067.1,