Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111534978
rs111534978
NHS
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: rs864309679
rs864309679
NHS
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