Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893857
rs104893857
PITX2
0.800 GeneticVariation UNIPROT Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. 16936096

2006
dbSNP: rs104893857
rs104893857
PITX2
0.800 GeneticVariation UNIPROT Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome. 12381896

2003
dbSNP: rs104893857
rs104893857
PITX2
0.800 GeneticVariation UNIPROT Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. 11487566

2001
dbSNP: rs104893857
rs104893857
PITX2
0.800 GeneticVariation UNIPROT Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. 10937553

2000
dbSNP: rs104893857
rs104893857
PITX2
0.800 GeneticVariation UNIPROT Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. 8944018

1996
dbSNP: rs104893857
rs104893857
PITX2
T 0.800 CausalMutation CLINVAR