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rs200883871

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200883871(C;C)
Make rs200883871(C;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position218814696
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs200883871
ebirs200883871
HLIrs200883871
Exacrs200883871
Varsomers200883871
Maprs200883871
PheGenIrs200883871
hapmaprs200883871
1000 genomesrs200883871
hgdprs200883871
ensemblrs200883871
gopubmedrs200883871
geneviewrs200883871
scholarrs200883871
googlers200883871
pharmgkbrs200883871
gwascentralrs200883871
openSNPrs200883871
23andMers200883871
23andMe allrs200883871
SNP Nexus

SNPshotrs200883871
SNPdbers200883871
MSV3drs200883871
GWAS Ctlgrs200883871
Max Magnitude0
ClinVar
Risk rs200883871(C;C)
Alt rs200883871(C;C)
Reference rs200883871(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679419G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056091.1,