Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328

2014

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Mutation spectrum of PAX6 in Chinese patients with aniridia. 21850189

2011

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 17595013

2007

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Molecular analysis of a human PAX6 homeobox mutant. 16493447

2006

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. 12634864

2003

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Missense mutations in the DNA-binding region and termination codon in PAX6. 12552561

2003

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 11826019

2002

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. 11553050

2001

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 11309364

2001

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Mutation in the PAX6 gene in twenty patients with aniridia. 10737978

2000

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 9931324

1999

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. 10234503

1999

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Missense mutations in the PAX6 gene in aniridia. 9856761

1998

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Ten novel mutations found in Aniridia. 9792406

1998

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. 9281415

1997

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT Functional analysis of paired box missense mutations in the PAX6 gene. 9147640

1997

dbSNP: rs121907919
rs121907919
0.700 GeneticVariation UNIPROT PAX6 mutations in aniridia. 8364574

1993