MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Epilepsy ×
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: rs28934904
rs28934904 		0.776 0.200 X 154031431 missense variant G/A;C;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.030 1.000 3 2006 2015
dbSNP: rs28934906
rs28934906 		0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.020 1.000 2 2010 2015
dbSNP: rs61749721
rs61749721 		0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.020 1.000 2 2010 2015
dbSNP: rs28934907
rs28934907 		0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs28935468
rs28935468 		0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2010 2010
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: rs61750240
rs61750240 		0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs61751364
rs61751364 		0.882 0.120 X 154030944 frameshift variant CGGAT/- delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2010 2010
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