rs61748404, 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 0.882 0.120 X 154031373 missense variant G/C;T snv 0.810 1.000 1 1999 2017
Macrocephaly
CUI: C0221355
Disease: Macrocephaly
10 0.882 0.120 X 154031373 missense variant G/C;T snv 0.010 1 2013 2013