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: rs1557136758
rs1557136758 		X 154031215 frameshift variant -/T delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs1557137745
rs1557137745 		X 154032272 missense variant C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs1557137745
rs1557137745 		X 154032272 missense variant C/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 19 1993 2016
dbSNP: rs61752371
rs61752371 		X 154030753 missense variant A/G snv 8.3E-05 4.8E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs587777421
rs587777421 		1.000 X 154030381 stop gained C/A;T snv 5.5E-06
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 		0.700 0
dbSNP: rs2734647
rs2734647 		1.000 0.040 X 154026729 3 prime UTR variant T/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs61749712
rs61749712 		1.000 0.040 X 154031243 missense variant G/A;T snv 1.7E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs868973240
rs868973240 		1.000 0.040 X 154032314 synonymous variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519543
rs1057519543 		1.000 0.040 X 154030913 missense variant C/A snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.700 0
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: 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: 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: 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: 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