rs142869513, CRYBA4

N. diseases: 2
Disease: Congenital cataract ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
0.010 GeneticVariation BEFREE Of the three mutations, two novel heterozygous mutations in GJA8, c.136G>A (p.Gly46Arg) and c.116C>G (p.Thr39Arg), were found in two families with congenital cataract and microcornea. 21686328 2011