Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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