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rs121908096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908096(C;T)
Make rs121908096(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218814186
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs121908096
ebirs121908096
HLIrs121908096
Exacrs121908096
Varsomers121908096
Maprs121908096
PheGenIrs121908096
hapmaprs121908096
1000 genomesrs121908096
hgdprs121908096
ensemblrs121908096
gopubmedrs121908096
geneviewrs121908096
scholarrs121908096
googlers121908096
pharmgkbrs121908096
gwascentralrs121908096
openSNPrs121908096
23andMers121908096
23andMe allrs121908096
SNP Nexus

SNPshotrs121908096
SNPdbers121908096
MSV3drs121908096
GWAS Ctlgrs121908096
Max Magnitude0
OMIM606530
Desc
Variant0002
Relatedalso
OMIM606530
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908096(A,T;A,T)
Alt rs121908096(A,T;A,T)
Reference rs121908096(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219678909C>A; NC_000002.11:g.219678909C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004483.2, RCV000004477.2,