Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907926
rs121907926
PAX6 ; ELP4
0.700 GeneticVariation UNIPROT Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955

2003
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
A 0.700 CausalMutation CLINVAR

dbSNP: rs121907924
rs121907924
PAX6
A 0.700 CausalMutation CLINVAR

dbSNP: rs886041222
rs886041222
PAX6
A 0.700 CausalMutation CLINVAR