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rs200553205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200553205(A;A)
Make rs200553205(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position218813096
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs200553205
ebirs200553205
HLIrs200553205
Exacrs200553205
Varsomers200553205
Maprs200553205
PheGenIrs200553205
hapmaprs200553205
1000 genomesrs200553205
hgdprs200553205
ensemblrs200553205
gopubmedrs200553205
geneviewrs200553205
scholarrs200553205
googlers200553205
pharmgkbrs200553205
gwascentralrs200553205
openSNPrs200553205
23andMers200553205
23andMe allrs200553205
SNP Nexus

SNPshotrs200553205
SNPdbers200553205
MSV3drs200553205
GWAS Ctlgrs200553205
Max Magnitude0
ClinVar
Risk rs200553205(A,C;A,C)
Alt rs200553205(A,C;A,C)
Reference rs200553205(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677819G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056065.1,