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Table 5 Characterization of EXOC3L4 rare variant loci

From: Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer’s disease

rsID

Consequence

p-valuea

SRE type

Variants across cohort

rs117708804

missense

4.32E-07

ESE, ESS

11

EXOC3L4

 

7.48E-06b

 

16

rs10142287

synonymous

1.58E-04

ESE

1

rs9324055

missense

1.59E-04

ESE

1

rs148718670

missense

1.68E-04

ESE

3

  1. aSKAT-O p-value results after removing the variant from EXOC3L4
  2. bSKAT-O p-value result using all variants from EXOC3L4