Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517491
rs1057517491
GJB2
0.030 GeneticVariation BEFREE Substitution of glycine at the position 45 of Cx26 to glutamic acid (p.G45E mutation) causes the Keratitis-ichthyosis-deafness (KID) syndrome. 23756814

2013
dbSNP: rs1057517491
rs1057517491
GJB2
0.030 GeneticVariation BEFREE Here, we examined two such mutations, A40V and G45E, which are positioned near the TM1/E1 boundary and are associated with keratitis ichthyosis deafness (KID) syndrome. 20584891

2010
dbSNP: rs1057517491
rs1057517491
GJB2
0.030 GeneticVariation BEFREE A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. 18024254

2008