Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907917
rs121907917
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
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
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: rs121907916
rs121907916
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
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
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: rs1131692289
rs1131692289
0.010 GeneticVariation BEFREE In the present study we used the minigene assay to analyze the functional consequences of six intronic (c.142-5T>G, c.142-14C>G, c.142-64A>C, c.141+4A>G, c.1032+ 6T>G, c.682+4delA), one missense (c.140A>G) and one synonymous (c.174C>T) variants in the PAX6 gene found in patients with congenital aniridia. 30315214

2019

dbSNP: rs759557055
rs759557055
0.010 GeneticVariation BEFREE Here, we report on a family with an autosomal dominant PAX6 mutation, c.214G > A (p.Gly72Ser.), who presented with CN in the absence of aniridia. 30986449

2019

dbSNP: rs763807196
rs763807196
0.010 GeneticVariation BEFREE In the present study we used the minigene assay to analyze the functional consequences of six intronic (c.142-5T>G, c.142-14C>G, c.142-64A>C, c.141+4A>G, c.1032+ 6T>G, c.682+4delA), one missense (c.140A>G) and one synonymous (c.174C>T) variants in the PAX6 gene found in patients with congenital aniridia. 30315214

2019

dbSNP: rs1131692297
rs1131692297
0.010 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