rs387907009, IQCB1

N. diseases: 3
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.
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05 0.700 1.000 1 2011 2011
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05 0.700 0
Senior-Loken Syndrome 5
CUI: C1836517
Disease: Senior-Loken Syndrome 5
11 0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05 0.700 0