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rs397515354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515354(A;A)
Make rs397515354(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218812750
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs397515354
ebirs397515354
HLIrs397515354
Exacrs397515354
Varsomers397515354
Maprs397515354
PheGenIrs397515354
hapmaprs397515354
1000 genomesrs397515354
hgdprs397515354
ensemblrs397515354
gopubmedrs397515354
geneviewrs397515354
scholarrs397515354
googlers397515354
pharmgkbrs397515354
gwascentralrs397515354
openSNPrs397515354
23andMers397515354
23andMe allrs397515354
SNP Nexus

SNPshotrs397515354
SNPdbers397515354
MSV3drs397515354
GWAS Ctlgrs397515354
Max Magnitude0
ClinVar
Risk rs397515354(A,C;A,C)
Alt rs397515354(A,C;A,C)
Reference rs397515354(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677473G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004479.2,