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rs72551319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72551319(A;T)
Make rs72551319(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218812929
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551319
ebirs72551319
HLIrs72551319
Exacrs72551319
Varsomers72551319
Maprs72551319
PheGenIrs72551319
hapmaprs72551319
1000 genomesrs72551319
hgdprs72551319
ensemblrs72551319
gopubmedrs72551319
geneviewrs72551319
scholarrs72551319
googlers72551319
pharmgkbrs72551319
gwascentralrs72551319
openSNPrs72551319
23andMers72551319
23andMe allrs72551319
SNP Nexus

SNPshotrs72551319
SNPdbers72551319
MSV3drs72551319
GWAS Ctlgrs72551319
Max Magnitude0


ClinVar
Risk rs72551319(T;T)
Alt rs72551319(T;T)
Reference rs72551319(A;A)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677652A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056153.1,