MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Spastic Quadriplegia ×
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: rs61751362
rs61751362 		0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0