rs527236160

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs527236160(-;-)

Make rs527236160(-;G)

Reference

GRCh38 38.1/142

Chromosome

19

Position

44908587

Gene

APOE

is a	snp
is	mentioned by
dbSNP	rs527236160
dbSNP (classic)	rs527236160
ClinGen	rs527236160
ebi	rs527236160
HLI	rs527236160
Exac	rs527236160
Gnomad	rs527236160
Varsome	rs527236160
LitVar	rs527236160
Map	rs527236160
PheGenI	rs527236160
Biobank	rs527236160
1000 genomes	rs527236160
hgdp	rs527236160
ensembl	rs527236160
geneview	rs527236160
scholar	rs527236160
google	rs527236160
pharmgkb	rs527236160
gwascentral	rs527236160
openSNP	rs527236160
23andMe	rs527236160
SNPshot	rs527236160
SNPdbe	rs527236160
MSV3d	rs527236160
GWAS Ctlg	rs527236160

Max Magnitude

0

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,