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rs587778783

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587778783(A;A)
Make rs587778783(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814433
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778783
ebirs587778783
HLIrs587778783
Exacrs587778783
Varsomers587778783
Maprs587778783
PheGenIrs587778783
hapmaprs587778783
1000 genomesrs587778783
hgdprs587778783
ensemblrs587778783
gopubmedrs587778783
geneviewrs587778783
scholarrs587778783
googlers587778783
pharmgkbrs587778783
gwascentralrs587778783
openSNPrs587778783
23andMers587778783
23andMe allrs587778783
SNP Nexus

SNPshotrs587778783
SNPdbers587778783
MSV3drs587778783
GWAS Ctlgrs587778783
Max Magnitude0
ClinVar
Risk rs587778783(A;A)
Alt rs587778783(A;A)
Reference rs587778783(T;T)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679156T>A
CLNSRC
CLNACC RCV000056080.1,