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rs397515355

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515355(A;A)
Make rs397515355(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218814459
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs397515355
ebirs397515355
HLIrs397515355
Exacrs397515355
Varsomers397515355
Maprs397515355
PheGenIrs397515355
hapmaprs397515355
1000 genomesrs397515355
hgdprs397515355
ensemblrs397515355
gopubmedrs397515355
geneviewrs397515355
scholarrs397515355
googlers397515355
pharmgkbrs397515355
gwascentralrs397515355
openSNPrs397515355
23andMers397515355
23andMe allrs397515355
SNP Nexus

SNPshotrs397515355
SNPdbers397515355
MSV3drs397515355
GWAS Ctlgrs397515355
Max Magnitude0
ClinVar
Risk rs397515355(A;A)
Alt rs397515355(A;A)
Reference rs397515355(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679182G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004484.2,