Gene: PAX6 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
A 0.700 CausalMutation CLINVAR PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 29618921

2018
dbSNP: rs1131692284
rs1131692284
PAX6
G 0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846

2017
dbSNP: rs1131692286
rs1131692286
PAX6
G 0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846

2017
dbSNP: rs1131692304
rs1131692304
PAX6
A 0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846

2017
dbSNP: rs1131692308
rs1131692308
PAX6
A 0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846

2017
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
A 0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846

2017
dbSNP: rs886041222
rs886041222
PAX6
A 0.700 CausalMutation CLINVAR Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 28321846

2017
dbSNP: rs1057517785
rs1057517785
PAX6
A 0.700 CausalMutation CLINVAR Assessment of PAX6 alleles in 66 families with aniridia. 26661695

2016
dbSNP: rs121907917
rs121907917
PAX6
A 0.700 CausalMutation CLINVAR [Analysis of PAX6 gene mutation in a family affected with congenital aniridia]. 27455012

2016
dbSNP: rs121907917
rs121907917
PAX6
A 0.700 CausalMutation CLINVAR Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. 26849621

2016
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
A 0.700 CausalMutation CLINVAR Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia. 27431685

2016
dbSNP: rs1554985305
rs1554985305
PAX6
A 0.700 CausalMutation CLINVAR Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population. 27307692

2016
dbSNP: rs398123295
rs398123295
PAX6
T 0.700 CausalMutation CLINVAR Assessment of PAX6 alleles in 66 families with aniridia. 26661695

2016
dbSNP: rs886041222
rs886041222
PAX6
A 0.700 CausalMutation CLINVAR Assessment of PAX6 alleles in 66 families with aniridia. 26661695

2016
dbSNP: rs1131692284
rs1131692284
PAX6
G 0.700 CausalMutation CLINVAR A rare PAX6 mutation in a Chinese family with congenital aniridia. 26535646

2015
dbSNP: rs121907917
rs121907917
PAX6
A 0.700 CausalMutation CLINVAR Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families. 27081502

2014
dbSNP: rs1554984996
rs1554984996
PAX6
T 0.700 CausalMutation CLINVAR Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. 24737507

2014
dbSNP: rs121907917
rs121907917
PAX6
A 0.700 CausalMutation CLINVAR 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. 23761016

2013
dbSNP: rs1057517785
rs1057517785
PAX6
A 0.700 CausalMutation CLINVAR Aniridia. 22692063

2012
dbSNP: rs121907917
rs121907917
PAX6
A 0.700 CausalMutation CLINVAR Aniridia. 22692063

2012
dbSNP: rs886041222
rs886041222
PAX6
A 0.700 CausalMutation CLINVAR Aniridia. 22692063

2012
dbSNP: rs1057517785
rs1057517785
PAX6
A 0.700 CausalMutation CLINVAR A case of aniridia with unilateral Peters anomaly. 21397818

2011
dbSNP: rs1131692284
rs1131692284
PAX6
G 0.700 CausalMutation CLINVAR Mutation spectrum of PAX6 in Chinese patients with aniridia. 21850189

2011
dbSNP: rs121907917
rs121907917
PAX6
A 0.700 CausalMutation CLINVAR Mutation spectrum of PAX6 in Chinese patients with aniridia. 21850189

2011
dbSNP: rs121907917
rs121907917
PAX6
A 0.700 CausalMutation CLINVAR Genetic and genomic analysis of classic aniridia in Saudi Arabia. 21423868

2011