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.
Usher Syndrome, Type III
CUI: C1568248
Disease: Usher Syndrome, Type III
24 0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 0.710 1.000 4 2002 2014
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 0.700 1.000 1 2002 2002
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2004 2004
Usher syndrome, type 1A
CUI: C2931205
Disease: Usher syndrome, type 1A
2 0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2004 2004
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
168 0.851 0.200 3 150972520 stop gained G/A;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2004 2004