rs61748389, 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 1.000 0.080 X 154031430 missense variant C/A;T snv 0.720 1.000 2 1999 2019
Seizures
CUI: C0036572
Disease: Seizures
139 1.000 0.080 X 154031430 missense variant C/A;T snv 0.010 1.000 1 2019 2019