PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
Disease: 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: rs1047322213
rs1047322213 		1.000 0.120 X 48902470 missense variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2018 2018
dbSNP: rs121917899
rs121917899 		1.000 0.080 X 48901944 missense variant A/G snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016