rs267608463, MECP2

N. diseases: 5
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.
Bruxism
CUI: C0006325
Disease: Bruxism
9 0.925 0.120 X 154032206 splice donor variant C/A;T snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.925 0.120 X 154032206 splice donor variant C/A;T snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.925 0.120 X 154032206 splice donor variant C/A;T snv 0.700 0
Delayed speech and language development
192 0.925 0.120 X 154032206 splice donor variant C/A;T snv 0.700 0
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.925 0.120 X 154032206 splice donor variant C/A;T snv 0.700 0