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.
Chilblain lupus 1
CUI: C0024145
Disease: Chilblain lupus 1
9 0.708 0.440 3 48466707 missense variant G/A snv 0.810 1.000 8 2007 2015
AICARDI-GOUTIERES SYNDROME 1
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
26 0.708 0.440 3 48466707 missense variant G/A snv 0.800 1.000 14 2006 2015
Vasculopathy, Retinal, With Cerebral Leukodystrophy
9 0.708 0.440 3 48466707 missense variant G/A snv 0.700 1.000 7 2007 2015
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
2 0.708 0.440 3 48466707 missense variant G/A snv 0.700 0
AICARDI-GOUTIERES SYNDROME
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
12 0.708 0.440 3 48466707 missense variant G/A snv 0.030 1.000 3 2008 2012
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.708 0.440 3 48466707 missense variant G/A snv 0.020 1.000 2 2015 2020
Anemia
CUI: C0002871
Disease: Anemia
94 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2018 2018
Cerebral Angiitis
CUI: C0238051
Disease: Cerebral Angiitis
1 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2017 2017
Chilblain lupus erythematosus
CUI: C4551515
Disease: Chilblain lupus erythematosus
2 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2007 2007
Chilblains
CUI: C0008058
Disease: Chilblains
4 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2017 2017
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
140 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
lupus cutaneous
CUI: C0746306
Disease: lupus cutaneous
1 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2018 2018
Lupus Erythematosus
CUI: C0409974
Disease: Lupus Erythematosus
44 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
Lupus Erythematosus, Discoid
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
46 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
Lupus Vulgaris
CUI: C0024131
Disease: Lupus Vulgaris
44 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
Normocytic normochromic anemia
CUI: C0271899
Disease: Normocytic normochromic anemia
1 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2018 2018