rs61751444, 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.
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.882 0.080 X 154030903 missense variant G/A snv 0.720 1.000 3 2007 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.080 X 154030903 missense variant G/A snv 0.700 1.000 19 1993 2016
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.882 0.080 X 154030903 missense variant G/A snv 0.700 1.000 3 2007 2013
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.080 X 154030903 missense variant G/A snv 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.882 0.080 X 154030903 missense variant G/A snv 0.010 1.000 1 2016 2016