Table 4 Enrichment in splicing-related features in sQTLs compared with psiQTLs in Geuvadis.

From: Identification of genetic variants associated with alternative splicing using sQTLseekeR

Feature

sQTLs

non-sQTL SNPs

sQTLs/non-sQTLs

sQTLseekeR sQTLs

 % within exons

37.83

11.97

3.2

 % within splice sites

1.20

0.24

5.0

 Variation in splice site strength

0.84

0.62

1.4

 Consistent/inconsistent changes in splice site usage and strength

10.50

1.54

6.8

 % within 1 kb of a GWAS

16.43

0.56

29.4

psiQTLs

 % within exons

23.34

11.77

2.0

 % within splice sites

1.00

0.21

4.8

 Variation in splice site strength

1.58

0.55

2.9

 Consistent/inconsistent changes in splice site usage and strength

5.94

1.36

4.4

 % within 1 kb of a GWAS

1.50

0.68

2.2

  1. GWAS, genome-wide association study; psiQTL, percent spliced in measure; SNP, single nucleotide polymorphism; sQTL, splicing QTLs.
  2. Only SNPs tested in both methods were considered.