rs1047286, C3

N. diseases: 2
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.
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.925 0.160 19 6713251 missense variant G/A;C snv 0.14; 4.0E-06 0.050 0.800 5 2010 2015
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.925 0.160 19 6713251 missense variant G/A;C snv 0.14; 4.0E-06 0.010 1 2010 2010