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rs121908099

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908099(A;A)
Make rs121908099(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218814409
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs121908099
ebirs121908099
HLIrs121908099
Exacrs121908099
Varsomers121908099
Maprs121908099
PheGenIrs121908099
hapmaprs121908099
1000 genomesrs121908099
hgdprs121908099
ensemblrs121908099
gopubmedrs121908099
geneviewrs121908099
scholarrs121908099
googlers121908099
pharmgkbrs121908099
gwascentralrs121908099
openSNPrs121908099
23andMers121908099
23andMe allrs121908099
SNP Nexus

SNPshotrs121908099
SNPdbers121908099
MSV3drs121908099
GWAS Ctlgrs121908099
Max Magnitude0
OMIM606530
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908099(A;A)
Alt rs121908099(A;A)
Reference rs121908099(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679132G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004482.2,