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. Author manuscript; available in PMC: 2015 May 4.
Published in final edited form as: Neurobiol Aging. 2014 Mar 11;35(8):1958.e3–1958.e12. doi: 10.1016/j.neurobiolaging.2014.03.005

Table 4.

Statistically significant associations with measures of cognitive function for exome variants

Phenotype Chromosome Position Gene Gene name Variant impact Alleles
(major/minor)		 MAF B (SE) p
Stroop 5 79024833 CMYA5 Cardiomyopathy associated 5 Missense -G82E G/A 0.0018 −1.81 (0.31) 1.08 × 10−8
11 64813784 NAALADL1 N-acetylated alpha-linked acidic dipeptidase-like 1 Missense -R578W G/A 0.0027 −1.81 (0.31) 1.08 × 10−8
DSST 17 39534363 KRT34 Keratin 34 Missense -S420T G/C 0.0018 41.99 (7.92) 1.78 × 10−7
3MSE 1 246810819 CNST Consortin connexin sorting protein Missense -C493F C/A 0.0018 −26.15 (4.41) 4.85 × 10−9
3 46658737 LOC100132146 — Missense -H33R G/A 0.0018 −26.15 (4.41) 4.85 × 10−9
9 26935046 PLAA Phospholipase A2-activating protein Missense -M103T A/G 0.0018 −26.15 (4.41) 4.85 × 10−9
1 204217977 PLEKHA6 Plexkstrin homology domain containing, family A member 6 Missense -I599S A/C 0.0037 −18.98 (3.25) 6.84 × 10−9
13 53419568 PCDH8 Protocadherin 8 Missense -M944T A/G 0.0073 −13.28 (2.39) 3.73 × 10−8
Semantic fluency 13 113718663 MCF2L MCL.2 cell line derived transforming sequence like Missense -K179E A/G 0.0018 25.02 (4.55) 6.78 × 10−8

Exome-wide significance was accepted at p < 2 × 10−7. Effect size (β) and standard error (SE) are shown along with association p-value.

Key: DSST, digit symbol substitution task; MAF, minor allele frequency; 3MSE, modified mini-mental state examination; RAVLT, rey auditory-verbal learning task.