AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
Disease: Lupus Erythematosus, Systemic ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2075876
rs2075876 		0.925 0.120 21 44289270 non coding transcript exon variant G/A snv 0.19
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs878081
rs878081 		0.882 0.200 21 44288394 synonymous variant C/T snv 0.21 0.19
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2019 2019