rs121434257, 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 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.710 1.000 20 1997 2016
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant
CUI: C1855869
Disease: Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant
1 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.700 0
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2008 2008
Autoimmune thyroiditis
CUI: C0920350
Disease: Autoimmune thyroiditis
76 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2001 2001
Hashimoto Disease
CUI: C0677607
Disease: Hashimoto Disease
131 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2001 2001
Hypothyroidism, Autoimmune
CUI: C0342158
Disease: Hypothyroidism, Autoimmune
2 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2008 2008