Gene: AIRE ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147846074
rs147846074
AIRE
0.010 GeneticVariation BEFREE In light of these findings, we propose that R247C and other variants within the SAND-domain alter protein function in a dominant fashion and hold potential as drivers of autoimmunity. 29129473

2018
dbSNP: rs141480813
rs141480813
AIRE
0.010 GeneticVariation BEFREE To our knowledge this is the first report of the S250C variant in a patient bearing this unusual combination of autoimmunity and immunodeficiency. 25068407

2014
dbSNP: rs1800520
rs1800520
AIRE
0.010 GeneticVariation BEFREE The heterozygous transversion c.961C > G (p.Ser278Arg) located in exon 7 was identified in 4 patients with autoimmune hepatitis type I, and mostly in those presenting with a positive family history for autoimmune diseases. 19322061

2009
dbSNP: rs121434257
rs121434257
AIRE
0.010 GeneticVariation BEFREE We utilized a novel G228W-knockin mouse model to show that this variant acted in a dominant-negative manner to cause a unique autoimmunity syndrome. 18414681

2008
dbSNP: rs121434256
rs121434256
AIRE
0.010 GeneticVariation BEFREE Given the carrier frequency of R139X in the Sardinian population, AIRE may be implicated in the pathogenesis of other autoimmune diseases in the Sardinian population, particularly those affecting the endocrine system. 9856486

1998