splice site variants associated_with SNVs

Subject: splice site variants
Relation: associated_with
Object: SNVs
p-value: —

Evidence from: primary | all sources

Evidence (1 sources)

Evolution and functional impact of rare coding variation from deep sequencing of human exomes. (2012) PMID:22604720 cited

4% of SNVs (22,381) located in splice sites

confidence: 0.88