rs61751443, MECP2

N. diseases: 3
Source: INFERRED ×
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
0.925 0.080 X 154030911 missense variant C/A;G;T snv 0.800 1.000 5 1999 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.925 0.080 X 154030911 missense variant C/A;G;T snv 0.700 1.000 19 1993 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.925 0.080 X 154030911 missense variant C/A;G;T snv 0.700 1.000 19 1993 2016