Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568303086
rs1568303086
A 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. 24077912

2014

dbSNP: rs1568303086
rs1568303086
A 0.700 GeneticVariation CLINVAR The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. 21671391

2011