SGO1, shugoshin 1, 151648

N. diseases: 41; N. variants: 2
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: rs199815268
rs199815268 		1.000 0.080 3 20183961 missense variant T/C snv 1.9E-04 1.5E-04
CUI: C4015474
Disease: Chronic atrial and intestinal dysrhythmia
Chronic atrial and intestinal dysrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 0
dbSNP: rs745986648
rs745986648 		1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs745986648
rs745986648 		1.000 0.200 3 20174431 missense variant C/T snv 1.2E-05 7.0E-06
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 2017 2017