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rs587778790

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587778790(-;-)
Make rs587778790(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218809626
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778790
ebirs587778790
HLIrs587778790
Exacrs587778790
Varsomers587778790
Maprs587778790
PheGenIrs587778790
hapmaprs587778790
1000 genomesrs587778790
hgdprs587778790
ensemblrs587778790
gopubmedrs587778790
geneviewrs587778790
scholarrs587778790
googlers587778790
pharmgkbrs587778790
gwascentralrs587778790
openSNPrs587778790
23andMers587778790
23andMe allrs587778790
SNP Nexus

SNPshotrs587778790
SNPdbers587778790
MSV3drs587778790
GWAS Ctlgrs587778790
Max Magnitude0
ClinVar
Risk rs587778790(;)
Alt rs587778790(;)
Reference rs587778790(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674349delC
CLNSRC
CLNACC RCV000056101.1,