Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167307
rs1114167307
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167308
rs1114167308
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		G 0.700 CausalMutation CLINVAR

dbSNP: rs864309687
rs864309687
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309691
rs864309691
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		A 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016
dbSNP: rs864309694
rs864309694
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		G 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549

2016