MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Rett Syndrome, Atypical ×
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: rs61748396
rs61748396 		0.882 0.080 X 154031405 stop gained G/C;T snv
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: 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: 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: rs61751457
rs61751457 		0.925 0.080 X 154030799 frameshift variant C/-;CC delins
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: rs61752361
rs61752361 		0.925 0.080 X 154030798 missense variant G/A;C snv 3.8E-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 2012 2012