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: 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: 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: 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: 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: 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: 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: rs267608454
rs267608454 		1.000 0.080 X 154032226 missense variant A/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.720 1.000 23 1999 2018
dbSNP: rs61748389
rs61748389 		1.000 0.080 X 154031430 missense variant C/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.720 1.000 23 1999 2019
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: rs61748383
rs61748383 		1.000 0.080 X 154031445 missense variant T/G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 22 1999 2017
dbSNP: rs61752361
rs61752361 		0.925 0.080 X 154030798 missense variant G/A;C snv 3.8E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 22 1999 2017
dbSNP: rs61748391
rs61748391 		1.000 0.080 X 154031425 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61748406
rs61748406 		1.000 0.080 X 154031365 missense variant A/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61748407
rs61748407 		1.000 0.080 X 154031361 missense variant T/C;G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61748411
rs61748411 		0.925 0.120 X 154031356 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 21 1999 2017
dbSNP: rs61748417
rs61748417 		1.000 0.080 X 154031346 missense variant C/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 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: rs61749730
rs61749730 		1.000 0.080 X 154031199 missense variant T/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61751373
rs61751373 		1.000 0.080 X 154030924 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017
dbSNP: rs61751441
rs61751441 		1.000 0.080 X 154030914 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 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