rs61752361, MECP2

N. diseases: 2
Source: BEFREE ×
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
54 0.925 0.080 X 154030798 missense variant G/A;C snv 3.8E-05 0.710 1.000 1 1999 2017
Rett Syndrome, Atypical
CUI: C2748910
Disease: Rett Syndrome, Atypical
5 0.925 0.080 X 154030798 missense variant G/A;C snv 3.8E-05 0.010 1.000 1 2012 2012