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rs397515353

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515353(A;A)
Make rs397515353(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218812923
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs397515353
ebirs397515353
HLIrs397515353
Exacrs397515353
Varsomers397515353
Maprs397515353
PheGenIrs397515353
hapmaprs397515353
1000 genomesrs397515353
hgdprs397515353
ensemblrs397515353
gopubmedrs397515353
geneviewrs397515353
scholarrs397515353
googlers397515353
pharmgkbrs397515353
gwascentralrs397515353
openSNPrs397515353
23andMers397515353
23andMe allrs397515353
SNP Nexus

SNPshotrs397515353
SNPdbers397515353
MSV3drs397515353
GWAS Ctlgrs397515353
Max Magnitude0
ClinVar
Risk rs397515353(A;A)
Alt rs397515353(A;A)
Reference rs397515353(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677646G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004478.2,