rs61748396, MECP2

N. diseases: 4
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.080 X 154031405 stop gained G/C;T snv 0.700 1.000 19 1993 2016
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.882 0.080 X 154031405 stop gained G/C;T snv 0.700 1.000 5 2001 2007
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.882 0.080 X 154031405 stop gained G/C;T snv 0.700 0
Rett Syndrome, Atypical
CUI: C2748910
Disease: Rett Syndrome, Atypical
47 0.882 0.080 X 154031405 stop gained G/C;T snv 0.700 0