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: rs121434427
rs121434427 		1.000 1 161209912 missense variant G/A snv
CUI: C4748759
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 		0.800 1.000 1 2001 2001
dbSNP: rs121434428
rs121434428 		1.000 1 161209915 missense variant C/A snv
CUI: C4748759
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 		0.800 1.000 1 2001 2001
dbSNP: rs121434429
rs121434429 		1.000 1 161213673 missense variant T/C snv 7.0E-06
CUI: C4748759
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 		0.800 1.000 1 2001 2001
dbSNP: rs150667550
rs150667550 		0.925 0.120 1 161210599 missense variant T/C snv 3.5E-04 1.1E-04
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 1.000 2 2010 2013
dbSNP: rs34448954
rs34448954 		1 161198399 missense variant C/G;T snv 4.3E-06; 8.0E-02 7.0E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1553249704
rs1553249704 		1.000 0.160 1 161206472 missense variant G/A snv
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 0.700 0
dbSNP: rs150667550
rs150667550 		0.925 0.120 1 161210599 missense variant T/C snv 3.5E-04 1.1E-04
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 2010 2010
dbSNP: rs538321148
rs538321148 		1.000 0.080 1 161198318 missense variant C/T snv 8.0E-06 6.3E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019