GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
APOE E3Kinsufficiently evaluated pathogenicunknown

(557 web hits)

APOE R25Cinsufficiently evaluated pathogenicunknown

(3 web hits)

APOE T42Ainsufficiently evaluated pathogenicunknown

(6 web hits)

APOE L46Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D03 from PGP sample 27486199
APOE C112Rinsufficiently evaluated pathogenicunknown

(192 web hits)

APOE C130Rpathogenic, f=0.135other

This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer’s. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer’s by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer’s by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).

(34 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS18504-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
APOE R134Qinsufficiently evaluated pathogenicunknown

(2 web hits)

APOE R136Sinsufficiently evaluated pathogenicunknown

(19 web hits)

APOE R145Cinsufficiently evaluated pathogenicunknown

(27 web hits)

APOE R145Hinsufficiently evaluated pathogenicunknown

(1 web hit)

APOE R145Pinsufficiently evaluated pathogenicunknown

(12 web hits)

APOE K146Einsufficiently evaluated pathogenicunknown

(3 web hits)

APOE K146Qinsufficiently evaluated pathogenicunknown

(11 web hits)

APOE R158Cinsufficiently evaluated pathogenicunknown

(178 web hits)

APOE R163Cinsufficiently evaluated none, f=0.005unknown

(2 web hits)

var-GS19129-1100-36-ASM
APOE R176Cinsufficiently evaluated pharmacogenetic, f=0.068other

This is generally known as the ApoE2 variant of ApoE and is associated with a decreased risk of Alzheimer’s disease.

(23 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
var-GS19700-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19834-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
APOE W210Xinsufficiently evaluated pathogenicunknown
APOE R228Cinsufficiently evaluated pathogenicunknown

(1 web hit)

APOE R274Hinsufficiently evaluated pathogenicunknown

(2 web hits)

APOE S296Rinsufficiently evaluated pathogenicunknown
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Total results: 20

Gene search

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