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.
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
1878 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.780 0.875 12 2005 2015
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
2 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.700 4 2005 2008
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
674 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.100 0.900 10 2006 2016
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
149 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.060 1.000 6 2009 2015
Pulmonary Fibrosis
CUI: C0034069
Disease: Pulmonary Fibrosis
13 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.020 1.000 2 2009 2015
Lymphohistiocytosis, Hemophagocytic
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
7 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1.000 1 2012 2012
Uveitis
CUI: C0042164
Disease: Uveitis
22 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1.000 1 2014 2014
Polyarthritis
CUI: C0162323
Disease: Polyarthritis
1 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1.000 1 2012 2012
Macrophage Activation Syndrome
CUI: C1096155
Disease: Macrophage Activation Syndrome
5 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1.000 1 2011 2011
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
43 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1 2010 2010
Diffuse Scleroderma
CUI: C1258104
Disease: Diffuse Scleroderma
10 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1 2015 2015
Primary Sjögren's syndrome
CUI: C0151449
Disease: Primary Sjögren's syndrome
15 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1.000 1 2008 2008
Macular retinal edema
CUI: C0271051
Disease: Macular retinal edema
2 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1.000 1 2014 2014
Hamman-Rich syndrome
CUI: C0085786
Disease: Hamman-Rich syndrome
9 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1.000 1 2009 2009
Macular Edema, Cystoid
CUI: C0024440
Disease: Macular Edema, Cystoid
2 0.707 0.321 7 128938247 splice donor variant T/G snp 0.47 0.010 1.000 1 2014 2014