rs61752068, CDKL5;RS1

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 18647212 missense variant C/T snv 5.5E-06 9.6E-06 0.800 1.000 25 1997 2016
Retinoschisis, Juvenile, X-Linked
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
16 0.925 0.040 X 18647212 missense variant C/T snv 5.5E-06 9.6E-06 0.010 1.000 1 2007 2007