rs281865364, RS1;CDKL5

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.
RETINOSCHISIS 1, X-LINKED, JUVENILE
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
59 0.925 0.040 X 18642041 missense variant C/T snv 0.700 1.000 13 1997 2016
Retinoschisis, Juvenile, X-Linked
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
16 0.925 0.040 X 18642041 missense variant C/T snv 0.010 1.000 1 2007 2007