Table 2 Set-unique burden of different variant types.

From: Genome-wide burden of deleterious coding variants increased in schizophrenia

Variant Type

Disease status

Total genes

P value

Deleterious genes

Case

4,533

0.008

 

Control

3,795

 

Splice site

Case

380

0.016

 

Control

276

 

Stop-altering

Case

350

0.004

 

Control

253

 

Double hits

Case

179

0.047

 

Control

103

 
  1. The polygenic burden of deleterious hits, splice site and stop-altering variants and double hits arising from set-unique SNVs (cases n=1,002, controls n=931). The category of double hits includes those genes for which an individual has two or more SNVs (of which at least one is predicted to be deleterious) within the borders of the gene. Each row contains the number of genes having at least one variant. Empirical P values for the difference in gene count are estimated empirically by permutation of phenotypes. Values in bold withstand correction for multiple testing (Supplementary Methods).
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