MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 403; N. variants: 307
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: rs28934908
rs28934908
0.715 0.250 X 154031409 missense variant G/A,T snp 5.5E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.060 0.667 6 2002 2017
dbSNP: rs61748392
rs61748392
0.801 0.214 X 154031418 missense variant T/C snp
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2001 2001
dbSNP: rs61748420
rs61748420
0.784 0.214 X 154031329 missense variant G/A,T snp
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2001 2001
dbSNP: rs61749735
rs61749735
0.923 0.179 X 154031162 synonymous variant G/A,C snp 5.4E-06; 3.8E-05
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006