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Table 3 SNPs with known changes in splicing identified by AASsites

From: Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites

Protein SNP Change in splice pattern Associated disease Reference
GSTM4 rs41283498 Exon skipping Lung cancer [11]
PCTK3 rs55957903 Exon skipping -  
VHL rs5030815 Exon skipping Renal cell carcinoma [12]
TSC2 rs45517091 Exon skipping Tuberous sclerosis [13]
GCSH rs62054483 Exon skipping Hyperglycinaemia [14]
NCAN rs61222528 Exon skipping -  
EZH2 rs1140478 Exon extension Prostate cancer [15]
ATP6V0A2 rs1139788 Exon extension Cutis laxa [16]