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rs201346271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201346271(C;C)
Make rs201346271(C;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position218812421
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs201346271
ebirs201346271
HLIrs201346271
Exacrs201346271
Varsomers201346271
Maprs201346271
PheGenIrs201346271
hapmaprs201346271
1000 genomesrs201346271
hgdprs201346271
ensemblrs201346271
gopubmedrs201346271
geneviewrs201346271
scholarrs201346271
googlers201346271
pharmgkbrs201346271
gwascentralrs201346271
openSNPrs201346271
23andMers201346271
23andMe allrs201346271
SNP Nexus

SNPshotrs201346271
SNPdbers201346271
MSV3drs201346271
GWAS Ctlgrs201346271
Max Magnitude0
ClinVar
Risk rs201346271(C;C)
Alt rs201346271(C;C)
Reference rs201346271(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677144G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000056130.1,