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: rs587776949
rs587776949 		0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2008 2014
dbSNP: rs376281345
rs376281345 		0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2003 2010
dbSNP: rs2637030
rs2637030 		5 53680995 intron variant G/A;C;T snv
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs4147743
rs4147743 		5 53681642 intron variant T/A snv 9.3E-02
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2012 2012
dbSNP: rs104893898
rs104893898 		1.000 0.040 5 53646371 stop gained C/T snv 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs104893899
rs104893899 		1.000 0.040 5 53560706 stop gained G/A snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121908985
rs121908985 		1.000 0.040 5 53646345 frameshift variant G/- delins
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1445075330
rs1445075330 		1.000 0.040 5 53683157 frameshift variant -/AAGTC delins 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554059248
rs1554059248 		1.000 0.120 5 53646231 splice acceptor variant A/G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554062427
rs1554062427 		1.000 0.120 5 53683163 frameshift variant CC/- del
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs376281345
rs376281345 		0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587776949
rs587776949 		0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs747359752
rs747359752 		1.000 0.040 5 53658555 missense variant G/C snv 8.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs381575
rs381575 		1.000 0.080 5 53617061 intron variant A/C snv 0.42
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2013 2013