rs149648640, KCNV2;PUM3

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.
Retinal Cone Dystrophy 3B
CUI: C1835897
Disease: Retinal Cone Dystrophy 3B
13 0.925 0.080 9 2729470 stop gained G/A;T snv 1.3E-04; 2.0E-05 0.700 1.000 5 2008 2013
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.925 0.080 9 2729470 stop gained G/A;T snv 1.3E-04; 2.0E-05 0.010 1.000 1 2011 2011