rs141480813, AIRE

N. diseases: 4
Disease: Alopecia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alopecia
CUI: C0002170
Disease: Alopecia
0.010 GeneticVariation BEFREE We report a unique patient, a 14 year old male from Lazio region, affected by common variable immunodeficiency associated with autoimmune manifestations (alopecia, onychodystrophy) and heterozygote for the S250C variant located in the SAND domain of the autoimmune regulator gene protein. 25068407 2014