Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929485
rs28929485
GJB2
0.810 GeneticVariation BEFREE Interestingly, this asparagine is near two of the residues mutated in Keratitis-like ichthyosis deafness (KID) syndrome (G12R and S17F), yet the phenotype associated with N14K strongly differs from the KID phenotype. 15245427

2004
dbSNP: rs28929485
rs28929485
GJB2
0.810 GeneticVariation UNIPROT

dbSNP: rs28929485
rs28929485
GJB2
A 0.810 CausalMutation CLINVAR