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. 2019 Oct 16;2(10):e1913491. doi: 10.1001/jamanetworkopen.2019.13491

Table 3. Variants Identified Predominantly in Participants With the Greatest Unexplained Intergenerational Variability in AAO of Alzheimer Diseasea .

Z Score of Residuals Gene (Variant) [Amino Acid Position] Mean Residual (Range)b
<−1 SD, earlier-than-expected offspring AAO GRN (42429501:G:A) [p.Arg433Gln] −1.63
MAPT (44061123:C:T) [p.Ser318Leu] −1.56 (−2.27 to −0.77)
PLD3 (408758:G:A) [p.Val159Met] −1.38
PSEN1 (73673178:A:G) [p.Glu318Gly] −1.04 (−2.13 to 0.64)
>1 SD, later-than-expected offspring AAO GRN (42429835:G:A) [p.Val514Met] 1.49
C9orf72c 1.34
PSEN2 (A346S) 1.32
PLD3 (40877595:G:A) [p.Val232Met] 1.31
APP (V287G) 1.11

Abbreviation: AAO, age at symptomatic onset.

a

Residual values from the model were normalized; high variability was defined as a Z score of residual SD less than −1 or greater than 1.

b

Items without a range were reported in only 1 participant.

c

Twenty-nine repeats.