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rs587778802

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587778802(-;-)
Make rs587778802(-;C)
Make rs587778802(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218782187
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778802
ebirs587778802
HLIrs587778802
Exacrs587778802
Varsomers587778802
Maprs587778802
PheGenIrs587778802
hapmaprs587778802
1000 genomesrs587778802
hgdprs587778802
ensemblrs587778802
gopubmedrs587778802
geneviewrs587778802
scholarrs587778802
googlers587778802
pharmgkbrs587778802
gwascentralrs587778802
openSNPrs587778802
23andMers587778802
23andMe allrs587778802
SNP Nexus

SNPshotrs587778802
SNPdbers587778802
MSV3drs587778802
GWAS Ctlgrs587778802
Max Magnitude0
ClinVar
Risk rs587778802(C;C)
Alt rs587778802(C;C)
Reference rs587778802(;)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219646910dupC
CLNSRC
CLNACC RCV000056127.1,