Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255246
rs879255246
OTOF
G 0.700 CausalMutation CLINVAR Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). 27082237

2016
dbSNP: rs74315320
rs74315320
GJB3 ; SMIM12 ; LOC105378642
G 0.700 CausalMutation CLINVAR

dbSNP: rs770247378
rs770247378
GJB3 ; SMIM12 ; LOC105378642
C 0.700 CausalMutation CLINVAR

dbSNP: rs772264564
rs772264564
GJB2
0.010 GeneticVariation BEFREE 465T-->A nonsense mutation that is associated to autosomal recessive deafness is a novel mutation found by this screening. 15603707

2004