Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs996389327
rs996389327
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		A 0.700 GeneticVariation CLINVAR Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. 26141571

2015
dbSNP: rs996389327
rs996389327
AIRE
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		A 0.700 GeneticVariation CLINVAR APECED mutations in the autoimmune regulator (AIRE) gene. 11524731

2001