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rs72551322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72551322(C;T)
Make rs72551322(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218814716
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551322
ebirs72551322
HLIrs72551322
Exacrs72551322
Varsomers72551322
Maprs72551322
PheGenIrs72551322
hapmaprs72551322
1000 genomesrs72551322
hgdprs72551322
ensemblrs72551322
gopubmedrs72551322
geneviewrs72551322
scholarrs72551322
googlers72551322
pharmgkbrs72551322
gwascentralrs72551322
openSNPrs72551322
23andMers72551322
23andMe allrs72551322
SNP Nexus

SNPshotrs72551322
SNPdbers72551322
MSV3drs72551322
GWAS Ctlgrs72551322
Max Magnitude0
OMIM606530
Desc
Variant0001
Relatedalso
OMIM606530
Desc
Variant0014
Relatedalso


ClinVar
Risk rs72551322(A,G,T;A,G,T)
Alt rs72551322(A,G,T;A,G,T)
Reference rs72551322(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679439C>G; NC_000002.11:g.219679439C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004488.2, RCV000004476.2,