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rs41272687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs41272687(C;T)
Make rs41272687(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218814154
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs41272687
ebirs41272687
HLIrs41272687
Exacrs41272687
Varsomers41272687
Maprs41272687
PheGenIrs41272687
hapmaprs41272687
1000 genomesrs41272687
hgdprs41272687
ensemblrs41272687
gopubmedrs41272687
geneviewrs41272687
scholarrs41272687
googlers41272687
pharmgkbrs41272687
gwascentralrs41272687
openSNPrs41272687
23andMers41272687
23andMe allrs41272687
SNP Nexus

SNPshotrs41272687
SNPdbers41272687
MSV3drs41272687
GWAS Ctlgrs41272687
Max Magnitude0


ClinVar
Risk rs41272687(T;T)
Alt rs41272687(T;T)
Reference rs41272687(C;C)
Significance Pathogenic
Disease Cholestanol storage disease not specified
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease not specified
Reversed 0
HGVS NC_000002.11:g.219678877C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056071.1, RCV000179342.1,