Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338948
rs80338948
GJB2
0.720 GeneticVariation BEFREE <i>GJB2</i>-R143W mutation accounted for over a quarter of familial non-syndromic HI in Ghana and should be investigated in clinical practice. 31620164

2019
dbSNP: rs80338948
rs80338948
GJB2
0.720 GeneticVariation BEFREE Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes. 16380907

2005
dbSNP: rs80338948
rs80338948
GJB2
A 0.720 CausalMutation CLINVAR