rs104894928, RS1;CDKL5

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.
RETINOSCHISIS 1, X-LINKED, JUVENILE
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
59 0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05 0.800 1.000 13 1997 2016
Retinoschisis, Juvenile, X-Linked
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
16 0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05 0.020 1.000 2 1999 1999
Retinoschisis
CUI: C0152439
Disease: Retinoschisis
6 0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05 0.010 1.000 1 1998 1998