rs750962965, 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.
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04 0.700 1.000 8 2005 2017
Senior-Loken Syndrome 5
CUI: C1836517
Disease: Senior-Loken Syndrome 5
11 0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04 0.700 1.000 3 2005 2013
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04 0.700 1.000 1 2005 2005