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rs121908098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908098(C;T)
Make rs121908098(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218814701
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs121908098
ebirs121908098
HLIrs121908098
Exacrs121908098
Varsomers121908098
Maprs121908098
PheGenIrs121908098
hapmaprs121908098
1000 genomesrs121908098
hgdprs121908098
ensemblrs121908098
gopubmedrs121908098
geneviewrs121908098
scholarrs121908098
googlers121908098
pharmgkbrs121908098
gwascentralrs121908098
openSNPrs121908098
23andMers121908098
23andMe allrs121908098
SNP Nexus

SNPshotrs121908098
SNPdbers121908098
MSV3drs121908098
GWAS Ctlgrs121908098
Max Magnitude0
OMIM606530
Desc
Variant0006
Relatedalso
OMIM606530
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908098(T;T)
Alt rs121908098(T;T)
Reference rs121908098(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679424C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004481.2,