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rs72551313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72551313(A;A)
Make rs72551313(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218809755
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551313
ebirs72551313
HLIrs72551313
Exacrs72551313
Varsomers72551313
Maprs72551313
PheGenIrs72551313
hapmaprs72551313
1000 genomesrs72551313
hgdprs72551313
ensemblrs72551313
gopubmedrs72551313
geneviewrs72551313
scholarrs72551313
googlers72551313
pharmgkbrs72551313
gwascentralrs72551313
openSNPrs72551313
23andMers72551313
23andMe allrs72551313
SNP Nexus

SNPshotrs72551313
SNPdbers72551313
MSV3drs72551313
GWAS Ctlgrs72551313
Max Magnitude0
OMIM606530
Desc
Variant0011
Relatedalso
ClinVar
Risk rs72551313(A;A)
Alt rs72551313(A;A)
Reference rs72551313(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674478G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004485.2,