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rs587778794

From SNPedia

Orientationplus
Geno Mag Summary
(AGTACCC;AGTACCC) 0 common in clinvar
Make rs587778794(-;-)
Make rs587778794(-;GTACCCA)
Make rs587778794(GTACCCA;GTACCCA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position218809690
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs587778794
ebirs587778794
HLIrs587778794
Exacrs587778794
Varsomers587778794
Maprs587778794
PheGenIrs587778794
hapmaprs587778794
1000 genomesrs587778794
hgdprs587778794
ensemblrs587778794
gopubmedrs587778794
geneviewrs587778794
scholarrs587778794
googlers587778794
pharmgkbrs587778794
gwascentralrs587778794
openSNPrs587778794
23andMers587778794
23andMe allrs587778794
SNP Nexus

SNPshotrs587778794
SNPdbers587778794
MSV3drs587778794
GWAS Ctlgrs587778794
Max Magnitude0
ClinVar
Risk rs587778794(;)
Alt rs587778794(;)
Reference rs587778794(AGTACCC;AGTACCC)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674413_219674419delGTACCCA
CLNSRC
CLNACC RCV000056109.1,