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rs587778779

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587778779(G;T)
Make rs587778779(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218814379
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778779
ebirs587778779
HLIrs587778779
Exacrs587778779
Varsomers587778779
Maprs587778779
PheGenIrs587778779
hapmaprs587778779
1000 genomesrs587778779
hgdprs587778779
ensemblrs587778779
gopubmedrs587778779
geneviewrs587778779
scholarrs587778779
googlers587778779
pharmgkbrs587778779
gwascentralrs587778779
openSNPrs587778779
23andMers587778779
23andMe allrs587778779
SNP Nexus

SNPshotrs587778779
SNPdbers587778779
MSV3drs587778779
GWAS Ctlgrs587778779
Max Magnitude0
ClinVar
Risk rs587778779(T;T)
Alt rs587778779(T;T)
Reference rs587778779(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679102G>T
CLNSRC
CLNACC RCV000056075.1,