Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148388884
rs148388884
GJB3 ; SMIM12 ; LOC105378642
0.010 GeneticVariation BEFREE The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated. 27350192

2016