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rs527236160

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs527236160(-;-)
Make rs527236160(-;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position44908587
GeneAPOE
is asnp
is mentioned by
dbSNPrs527236160
ebirs527236160
HLIrs527236160
Exacrs527236160
Varsomers527236160
Maprs527236160
PheGenIrs527236160
hapmaprs527236160
1000 genomesrs527236160
hgdprs527236160
ensemblrs527236160
gopubmedrs527236160
geneviewrs527236160
scholarrs527236160
googlers527236160
pharmgkbrs527236160
gwascentralrs527236160
openSNPrs527236160
23andMers527236160
23andMe allrs527236160
SNP Nexus

SNPshotrs527236160
SNPdbers527236160
MSV3drs527236160
GWAS Ctlgrs527236160
Max Magnitude0
Also known as c.291del or p.E97fs, this rare SNP in the APOE gene was found by whole-exome sequencing of the DNA of a patient with severe dysbetalipoproteinemia., The patient was homozygous for the minor/rare allele, rs527236160(-;-), yet despite the complete absence of apoE, he had "normal vision, exhibited normal cognitive, neurological, and retinal function, had normal findings on brain magnetic resonance imaging, and had normal cerebrospinal fluid levels of β-amyloid and tau proteins". He did have extremely high cholesterol levels (760 mg/dL) and mild atherosclerosis but otherwise no significant symptoms of cardiovascular disease. Overall, it appears as if apoE is not essential in the brain or eye.[PMID 25111166]
ClinVar
Risk rs527236160(;)
Alt rs527236160(;)
Reference rs527236160(G;G)
Significance Untested
Disease not provided
Variation info
Gene APOE
CLNDBN not provided
Reversed 0
HGVS NC_000019.9:g.45411844delG
CLNSRC ClinVar
CLNACC RCV000132772.1,