Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894407
rs104894407
GJB2
0.710 GeneticVariation BEFREE To dissect the pathomechanisms that result in diverse phenotypes of dominant GJB2 mutations, we studied the effect of three Cx26 mutants (DeltaE42, D66H and R75W) identified in individuals with PPK/HI, and another (W44C) present in individuals with non-syndromic HI on gap junctional intercellular communication. 11493646

2001
dbSNP: rs104894407
rs104894407
GJB2
T 0.710 CausalMutation CLINVAR