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.
Sarcoidosis
CUI: C0036202
Disease: Sarcoidosis
787 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.900 0.933 15 2005 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.710 1.000 4 2005 2011
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
954 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.710 1.000 2 2005 2007
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.700 1.000 1 2007 2007
Narcolepsy
CUI: C0027404
Disease: Narcolepsy
454 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.700 1.000 1 2009 2009
SARCOIDOSIS, SUSCEPTIBILITY TO, 2
CUI: C2676468
Disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2
1 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.700 0
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2005 2005
Granulomatosis
CUI: C0521173
Disease: Granulomatosis
1 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2009 2009
Granulomatosis with polyangiitis
CUI: C3495801
Disease: Granulomatosis with polyangiitis
18 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1 2006 2006
Granulomatosis, Orofacial
CUI: C0399496
Disease: Granulomatosis, Orofacial
3 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2016 2016
Graves Disease
CUI: C0018213
Disease: Graves Disease
352 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1 2006 2006
Lofgrens syndrome
CUI: C0340164
Disease: Lofgrens syndrome
13 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2012 2012
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2005 2005
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2014 2014
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
CUI: C4050407
Disease: Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
15 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1 2006 2006
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2014 2014
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
328 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1 2007 2007