Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894269
rs104894269
0.800 GeneticVariation UNIPROT Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. 11600883

2001

dbSNP: rs104894269
rs104894269
A 0.800 CausalMutation CLINVAR