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.
AICARDI-GOUTIERES SYNDROME 1
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
26 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.800 1.000 16 2006 2017
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.730 1.000 6 2007 2013
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.700 1.000 9 2006 2017
Vasculopathy, Retinal, With Cerebral Leukodystrophy
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.700 1.000 9 2006 2017
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
5 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.700 0
AICARDI-GOUTIERES SYNDROME
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
12 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.030 1.000 3 2008 2017
Lupus Erythematosus
CUI: C0409974
Disease: Lupus Erythematosus
44 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.010 1.000 1 2011 2011
Lupus Erythematosus, Discoid
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
46 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.010 1.000 1 2011 2011
Lupus Vulgaris
CUI: C0024131
Disease: Lupus Vulgaris
44 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.010 1.000 1 2011 2011