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.
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.851 0.120 21 31659806 missense variant G/C snv 0.800 1.000 23 1993 2012
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 1999 1999
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.851 0.120 21 31659806 missense variant G/C snv 0.010 1.000 1 2005 2005