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: rs1298860043
rs1298860043 		1.000 6 5545179 splice acceptor variant G/A;T snv 4.0E-06
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 1.000 1 2016 2016
dbSNP: rs145555213
rs145555213 		0.925 0.160 6 5368994 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2016 2016
dbSNP: rs145555213
rs145555213 		0.925 0.160 6 5368994 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs764427452
rs764427452 		0.851 0.120 6 5545248 missense variant G/A;T snv 7.6E-05
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs764427452
rs764427452 		0.851 0.120 6 5545248 missense variant G/A;T snv 7.6E-05
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs764427452
rs764427452 		0.851 0.120 6 5545248 missense variant G/A;T snv 7.6E-05
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 1.000 1 2014 2014
dbSNP: rs764427452
rs764427452 		0.851 0.120 6 5545248 missense variant G/A;T snv 7.6E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11243033
rs11243033 		1.000 0.040 6 5736510 intron variant G/C snv 0.48
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4959355
rs4959355 		1.000 0.040 6 5736979 intron variant G/C snv 0.62
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1561990552
rs1561990552 		1.000 6 5369100 missense variant T/A snv
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 0
dbSNP: rs1407198979
rs1407198979 		1.000 6 5613266 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 0
dbSNP: rs397514611
rs397514611 		1.000 6 5545261 missense variant T/C snv 1.2E-05
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.800 1.000 2 2012 2012
dbSNP: rs397514611
rs397514611 		1.000 6 5545261 missense variant T/C snv 1.2E-05
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2019 2019