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.
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.882 0.240 12 88141287 missense variant C/A snv 0.800 1.000 6 2006 2015
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.240 12 88141287 missense variant C/A snv 0.700 1.000 1 2006 2006
SENIOR-LOKEN SYNDROME 6
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
13 0.882 0.240 12 88141287 missense variant C/A snv 0.700 1.000 1 2010 2010