Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1165937383
rs1165937383
GJB2
0.030 GeneticVariation BEFREE The Cx26 N14K mutation was also examined that is associated with deafness but has a skin disorder distinct from the KID syndrome mutations. 18987669

2009
dbSNP: rs1165937383
rs1165937383
GJB2
0.030 GeneticVariation BEFREE A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? 18950394

2009
dbSNP: rs1165937383
rs1165937383
GJB2
0.030 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