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: rs111677724
rs111677724 		22 23766251 missense variant G/T snv 1.3E-02
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1181028283
rs1181028283 		0.925 0.120 22 23766215 stop gained G/A snv 4.3E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1181028283
rs1181028283 		0.925 0.120 22 23766215 stop gained G/A snv 4.3E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017