Gene: PAX6 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907927
rs121907927
PAX6
0.800 GeneticVariation UNIPROT Ten novel mutations found in Aniridia. 9792406

1998
dbSNP: rs121907928
rs121907928
PAX6
0.800 GeneticVariation UNIPROT Missense mutations in the PAX6 gene in aniridia. 9856761

1998
dbSNP: rs121907928
rs121907928
PAX6
0.800 GeneticVariation UNIPROT Ten novel mutations found in Aniridia. 9792406

1998
dbSNP: rs121907927
rs121907927
PAX6
0.800 GeneticVariation UNIPROT Functional analysis of paired box missense mutations in the PAX6 gene. 9147640

1997
dbSNP: rs121907927
rs121907927
PAX6
0.800 GeneticVariation UNIPROT Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. 9281415

1997
dbSNP: rs121907928
rs121907928
PAX6
0.800 GeneticVariation UNIPROT Functional analysis of paired box missense mutations in the PAX6 gene. 9147640

1997
dbSNP: rs121907928
rs121907928
PAX6
0.800 GeneticVariation UNIPROT Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations. 9281415

1997
dbSNP: rs121907927
rs121907927
PAX6
0.800 GeneticVariation UNIPROT PAX6 mutations in aniridia. 8364574

1993
dbSNP: rs121907928
rs121907928
PAX6
0.800 GeneticVariation UNIPROT PAX6 mutations in aniridia. 8364574

1993
dbSNP: rs121907927
rs121907927
PAX6
G 0.800 CausalMutation CLINVAR

dbSNP: rs121907928
rs121907928
PAX6
T 0.800 CausalMutation CLINVAR

dbSNP: rs121907917
rs121907917
PAX6
0.720 GeneticVariation BEFREE The internal control was from a girl with typical aniridia and an identified c.718C>T (p.R240X) mutation in PAX6, suggesting the c.608G>A variation in SIX6 was unlikely to play a role in her ocular phenotype. 20057906

2009
dbSNP: rs121907917
rs121907917
PAX6
0.720 GeneticVariation BEFREE A human aniridia pedigree with a PAX6 R240Stop mutation was examined for abnormal glucose metabolism using an OGTT. 19034419

2009
dbSNP: rs121907917
rs121907917
PAX6
0.720 GeneticVariation BEFREE The internal control was from a girl with typical aniridia and an identified c.718C>T (p.R240X) mutation in PAX6, suggesting the c.608G>A variation in SIX6 was unlikely to play a role in her ocular phenotype. 20057906

2009
dbSNP: rs121907917
rs121907917
PAX6
A 0.720 CausalMutation CLINVAR

dbSNP: rs121907916
rs121907916
PAX6
0.710 GeneticVariation BEFREE In addition, a known variant (c.649C>T; p.Arg217*) in PAX6 segregated in a family with aniridia. 27463523

2016
dbSNP: rs121907916
rs121907916
PAX6
0.710 GeneticVariation BEFREE In addition, a known variant (c.649C>T; p.Arg217*) in PAX6 segregated in a family with aniridia. 27463523

2016
dbSNP: rs121907914
rs121907914
PAX6
0.710 GeneticVariation BEFREE We identified a recurrent PAX6 c.307C>T mutation in an aniridia and congenital progressive cataract family, and summarized the variable phenotypes among the patients, which expanded the phenotypic spectrum of aniridia in a different ethnic background. 22393272

2012
dbSNP: rs121907914
rs121907914
PAX6
A 0.710 CausalMutation CLINVAR

dbSNP: rs121907916
rs121907916
PAX6
A 0.710 CausalMutation CLINVAR

dbSNP: rs121907919
rs121907919
PAX6
0.700 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328

2014
dbSNP: rs373661718
rs373661718
PAX6
0.700 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328

2014
dbSNP: rs749244084
rs749244084
PAX6
0.700 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328

2014
dbSNP: rs757259413
rs757259413
PAX6
0.700 GeneticVariation UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328

2014
dbSNP: rs121907919
rs121907919
PAX6
0.700 GeneticVariation UNIPROT Mutation spectrum of PAX6 in Chinese patients with aniridia. 21850189

2011