rs61748411, MECP2

N. diseases: 3
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 0.120 X 154031356 missense variant T/C snv 0.710 1.000 1 1999 2017
Developmental regression
CUI: C1836830
Disease: Developmental regression
2 0.925 0.120 X 154031356 missense variant T/C snv 0.010 1.000 1 2011 2011
Memory impairment
CUI: C0233794
Disease: Memory impairment
33 0.925 0.120 X 154031356 missense variant T/C snv 0.010 1.000 1 2011 2011