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rs121908102

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908102(C;T)
Make rs121908102(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218813095
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs121908102
ebirs121908102
HLIrs121908102
Exacrs121908102
Varsomers121908102
Maprs121908102
PheGenIrs121908102
hapmaprs121908102
1000 genomesrs121908102
hgdprs121908102
ensemblrs121908102
gopubmedrs121908102
geneviewrs121908102
scholarrs121908102
googlers121908102
pharmgkbrs121908102
gwascentralrs121908102
openSNPrs121908102
23andMers121908102
23andMe allrs121908102
SNP Nexus

SNPshotrs121908102
SNPdbers121908102
MSV3drs121908102
GWAS Ctlgrs121908102
Max Magnitude0
OMIM606530
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908102(T;T)
Alt rs121908102(T;T)
Reference rs121908102(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677818C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004487.2,