rs267608563, MECP2

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.
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.925 0.080 X 154030763 missense variant G/A;T snv 0.010 1.000 1 2012 2012
Rett Syndrome, Atypical
CUI: C2748910
Disease: Rett Syndrome, Atypical
47 0.925 0.080 X 154030763 missense variant G/A;T snv 0.010 1.000 1 2012 2012