Have questions? Visit https://www.reddit.com/r/SNPedia

rs72551318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72551318(C;T)
Make rs72551318(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218812713
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs72551318
ebirs72551318
HLIrs72551318
Exacrs72551318
Varsomers72551318
Maprs72551318
PheGenIrs72551318
hapmaprs72551318
1000 genomesrs72551318
hgdprs72551318
ensemblrs72551318
gopubmedrs72551318
geneviewrs72551318
scholarrs72551318
googlers72551318
pharmgkbrs72551318
gwascentralrs72551318
openSNPrs72551318
23andMers72551318
23andMe allrs72551318
SNP Nexus

SNPshotrs72551318
SNPdbers72551318
MSV3drs72551318
GWAS Ctlgrs72551318
Max Magnitude0


ClinVar
Risk rs72551318(G,T;G,T)
Alt rs72551318(G,T;G,T)
Reference rs72551318(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219677436C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056148.1,