MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Source: BEFREE ×
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: 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: 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: rs2075596
rs2075596 		1.000 0.080 X 154031941 intron variant A/C;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2013 2015
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 2 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 2 1999 2019
dbSNP: rs61751444
rs61751444 		0.882 0.080 X 154030903 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.720 1.000 2 2007 2016
dbSNP: rs148744894
rs148744894 		1.000 0.080 X 154030832 synonymous variant G/A snv 2.5E-04 1.2E-04
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1734787
rs1734787 		1.000 0.080 X 154059995 non coding transcript exon variant A/C snv 0.17
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 0.500 1 2015 2015
dbSNP: rs1734791
rs1734791 		1.000 0.080 X 154065469 intron variant A/T snv 0.22
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1734792
rs1734792 		1.000 0.080 X 154075609 intron variant C/A snv 0.21
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs179363900
rs179363900 		0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2009 2009
dbSNP: rs267608563
rs267608563 		0.925 0.080 X 154030763 missense variant G/A;T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267608563
rs267608563 		0.925 0.080 X 154030763 missense variant G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267608572
rs267608572 		1.000 0.080 X 154030690 missense variant C/T snv 3.5E-04 2.2E-04
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs267608591
rs267608591 		1.000 0.080 X 154030643 splice acceptor variant TCTCGGGCTCAGGTGGAGGTGGGGGC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2016 2016
dbSNP: rs267608595
rs267608595 		1.000 0.080 X 154030662 frameshift variant GTGGGGG/-;G delins 6.4E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs267608597
rs267608597 		0.882 0.080 X 154030665 stop gained GG/TA mnv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs267608597
rs267608597 		0.882 0.080 X 154030665 stop gained GG/TA mnv
CUI: C0948392
Disease: Borderline mental impairment
Borderline mental impairment 		0.010 1.000 1 2007 2007
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 1 1999 2017
dbSNP: rs56268439
rs56268439 		1.000 0.080 X 154030639 stop gained C/A;T snv 5.8E-06; 5.8E-06; 2.2E-03
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs587781033
rs587781033 		1.000 0.080 X 154030391 synonymous variant C/T snv 1.1E-04 7.6E-05
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs61748381
rs61748381 		1.000 0.080 X 154031226 missense variant G/A snv 1.4E-03 1.5E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2006 2006
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 1 1999 2017
dbSNP: rs61748389
rs61748389 		1.000 0.080 X 154031430 missense variant C/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019