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rs121908097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908097(A;A)
Make rs121908097(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218814702
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs121908097
ebirs121908097
HLIrs121908097
Exacrs121908097
Varsomers121908097
Maprs121908097
PheGenIrs121908097
hapmaprs121908097
1000 genomesrs121908097
hgdprs121908097
ensemblrs121908097
gopubmedrs121908097
geneviewrs121908097
scholarrs121908097
googlers121908097
pharmgkbrs121908097
gwascentralrs121908097
openSNPrs121908097
23andMers121908097
23andMe allrs121908097
SNP Nexus

SNPshotrs121908097
SNPdbers121908097
MSV3drs121908097
GWAS Ctlgrs121908097
Max Magnitude0
OMIM606530
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908097(A;A)
Alt rs121908097(A;A)
Reference rs121908097(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679425G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004480.2,