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rs201114717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201114717(C;T)
Make rs201114717(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218809700
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs201114717
ebirs201114717
HLIrs201114717
Exacrs201114717
Varsomers201114717
Maprs201114717
PheGenIrs201114717
hapmaprs201114717
1000 genomesrs201114717
hgdprs201114717
ensemblrs201114717
gopubmedrs201114717
geneviewrs201114717
scholarrs201114717
googlers201114717
pharmgkbrs201114717
gwascentralrs201114717
openSNPrs201114717
23andMers201114717
23andMe allrs201114717
SNP Nexus

SNPshotrs201114717
SNPdbers201114717
MSV3drs201114717
GWAS Ctlgrs201114717
Max Magnitude0
ClinVar
Risk rs201114717(G,T;G,T)
Alt rs201114717(G,T;G,T)
Reference rs201114717(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674423C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056110.1,