rs121434254, AIRE

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Polyglandular Type I Autoimmune Syndrome
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
76 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.760 1.000 14 1997 2018
Autoimmune Chronic Hepatitis
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
23 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2001 2001
Autoimmune hepatitis
CUI: C4721555
Disease: Autoimmune hepatitis
22 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2001 2001
Candidiasis
CUI: C0006840
Disease: Candidiasis
8 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2002 2002
Gastritis, Atrophic
CUI: C0017154
Disease: Gastritis, Atrophic
61 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2001 2001
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
667 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2001 2001