Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555743003
rs1555743003
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016

dbSNP: rs1131691771
rs1131691771
A 0.700 GeneticVariation CLINVAR

dbSNP: rs28935469
rs28935469
A 0.700 CausalMutation CLINVAR

dbSNP: rs886041125
rs886041125
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886041125
rs886041125
G 0.700 CausalMutation CLINVAR

dbSNP: rs28931594
rs28931594
0.010 GeneticVariation BEFREE This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss. 18412859

2008