MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28934906
rs28934906
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.900 1.000 58 1999 2017
dbSNP: rs28934904
rs28934904
0.776 0.200 X 154031431 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.880 1.000 42 1999 2017
dbSNP: rs28935468
rs28935468
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.870 1.000 47 1999 2017
dbSNP: rs28934907
rs28934907
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.840 1.000 30 1999 2017
dbSNP: rs61748390
rs61748390
0.925 0.080 X 154031427 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 27 1988 2017
dbSNP: rs61748404
rs61748404
0.882 0.120 X 154031373 missense variant G/C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 26 1999 2017
dbSNP: rs28934905
rs28934905
1.000 0.080 X 154031364 missense variant A/C;G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 22 1999 2017
dbSNP: rs61749723
rs61749723
0.925 0.080 X 154030923 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 25 1999 2017
dbSNP: rs61751443
rs61751443
0.925 0.080 X 154030911 missense variant C/A;G;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 25 1999 2017
dbSNP: rs61749715
rs61749715
0.851 0.120 X 154031154 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 21 1999 2017
dbSNP: rs61751449
rs61751449
0.925 0.080 X 154030864 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 21 1999 2017
dbSNP: rs28935168
rs28935168
1.000 0.080 X 154032286 missense variant G/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 20 1999 2017
dbSNP: rs28934908
rs28934908
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
Mental Retardation, X-Linked, Syndromic 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 10 2000 2007
dbSNP: rs61748392
rs61748392
0.925 0.200 X 154031418 missense variant T/C snv
Mental Retardation, X-Linked, Syndromic 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 10 2000 2007
dbSNP: rs61749715
rs61749715
0.851 0.120 X 154031154 missense variant G/A;C snv
Mental Retardation, X-Linked, Syndromic 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 10 2000 2007
dbSNP: rs61751449
rs61751449
0.925 0.080 X 154030864 missense variant G/A;C snv
Mental Retardation, X-Linked, Syndromic 13
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 10 2000 2007
dbSNP: rs5987194
rs5987194
1.000 0.120 X 154036016 intron variant C/G snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs61754421
rs61754421
1.000 0.080 X 154032556 stop gained C/A;G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs61754452
rs61754452
1.000 0.080 X 154032283 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs61754453
rs61754453
1.000 0.080 X 154032282 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs61754457
rs61754457
1.000 0.080 X 154032267 missense variant C/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs61751364
rs61751364
0.882 0.120 X 154030944 frameshift variant CGGAT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.770 1.000 7 2005 2016
dbSNP: rs61750240
rs61750240
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.760 1.000 24 2000 2016
dbSNP: rs61748421
rs61748421
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.740 1.000 42 1999 2014
dbSNP: rs61751362
rs61751362
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.730 1.000 20 1975 2013