MED13, mediator complex subunit 13, 9969

N. diseases: 29; N. variants: 2
Disease: Moderate intellectual disability ×
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: rs773685207
rs773685207 		0.851 0.200 17 61966645 stop gained G/A;C;T snv 4.3E-06; 4.3E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0