Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167433
rs1114167433
CRYBA4 ; CRYBB1
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.020 GeneticVariation BEFREE Increasing βB1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R. 23159606

2013
dbSNP: rs1114167433
rs1114167433
CRYBA4 ; CRYBB1
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.020 GeneticVariation BEFREE A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer. 21972112

2011