rs1057516744, RS1;CDKL5

N. diseases: 1
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 1.000 X 18644454 stop gained G/T snv 0.700 1.000 1 2011 2011