Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434256
rs121434256
AIRE
0.010 GeneticVariation BEFREE Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy presenting with severe keratopathy in an Egyptian patient with a homozygous R139X mutation. 16166780

2005