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: rs387906639
rs387906639 		0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05
CUI: C3281066
Disease: USHER SYNDROME, TYPE IIIB
USHER SYNDROME, TYPE IIIB 		0.800 1.000 1 2012 2012
dbSNP: rs387906639
rs387906639 		0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2012 2016
dbSNP: rs387906639
rs387906639 		0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 4 2012 2016
dbSNP: rs747156884
rs747156884 		1.000 5 140674274 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C4225265
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W 		0.700 0
dbSNP: rs387906639
rs387906639 		0.925 0.120 5 140674776 missense variant T/G snv 2.0E-05 9.1E-05
CUI: C0018524
Disease: Hallucinations
Hallucinations 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017