rs121918244, IQCB1

N. diseases: 4
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.
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 1.000 1 2005 2005
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 0
Senior-Loken Syndrome 1
CUI: C4551559
Disease: Senior-Loken Syndrome 1
3 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 0
Senior-Loken Syndrome 5
CUI: C1836517
Disease: Senior-Loken Syndrome 5
11 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 0