AIRE, autoimmune regulator, 326

N. diseases: 175; N. variants: 85
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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.860 0.833 6 2011 2019
dbSNP: rs878081
rs878081
0.882 0.200 21 44288394 synonymous variant C/T snv 0.21 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.030 0.667 3 2013 2019
dbSNP: rs760426
rs760426
1.000 0.120 21 44295931 intron variant A/G snv 0.16
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs1055311
rs1055311
1.000 0.120 21 44289685 synonymous variant C/G;T snv 2.0E-05; 0.23
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs147846074
rs147846074
0.925 0.200 21 44289743 missense variant C/G;T snv 1.2E-05; 3.2E-05; 4.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1800520
rs1800520
0.851 0.200 21 44290023 missense variant C/A;G;T snv 0.14; 8.3E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2776377
rs2776377
1.000 0.120 21 44284761 upstream gene variant A/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013