rs61750250, 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.
Rett Syndrome, Atypical
CUI: C2748910
Disease: Rett Syndrome, Atypical
47 1.000 0.080 X 18598472 frameshift variant TTGGACCCAG/- delins 0.700 0