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: rs104894705
rs104894705 		0.925 0.120 19 1391006 missense variant G/A snv 5.6E-05 8.4E-05
CUI: C4748752
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 		0.800 1.000 2 1999 1999
dbSNP: rs121434479
rs121434479 		1.000 19 1391144 missense variant G/A snv 7.0E-06
CUI: C4748752
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 		0.700 0
dbSNP: rs1568985256
rs1568985256 		1.000 19 1386644 splice region variant C/G snv
CUI: C4748752
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 		0.700 0
dbSNP: rs104894705
rs104894705 		0.925 0.120 19 1391006 missense variant G/A snv 5.6E-05 8.4E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs2074898
rs2074898 		1.000 0.040 19 1391362 intron variant A/C;G snv
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs2074898
rs2074898 		1.000 0.040 19 1391362 intron variant A/C;G snv
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs2074898
rs2074898 		1.000 0.040 19 1391362 intron variant A/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs776254971
rs776254971 		0.925 0.240 19 1388873 missense variant A/G snv 4.2E-06
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs776254971
rs776254971 		0.925 0.240 19 1388873 missense variant A/G snv 4.2E-06
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012