Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554984996
rs1554984996
PAX6
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		T 0.700 CausalMutation CLINVAR Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. 24737507

2014
dbSNP: rs1554984996
rs1554984996
PAX6
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		T 0.700 CausalMutation CLINVAR A novel PAX6 gene mutation in a Chinese family with aniridia. 15889018

2005