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: rs104894884
rs104894884 		0.882 0.040 X 119871933 missense variant G/C snv
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.800 1.000 1 2007 2007
dbSNP: rs104894885
rs104894885 		0.851 0.120 X 119873312 missense variant G/A;C snv
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.800 1.000 1 2007 2007
dbSNP: rs1257734702
rs1257734702 		1.000 0.080 X 119873358 missense variant C/T snv 9.6E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs794726863
rs794726863 		0.882 0.160 X 119870713 stop gained G/A snv
CUI: C4225420
Disease: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE 		0.700 0
dbSNP: rs104894884
rs104894884 		0.882 0.040 X 119871933 missense variant G/C snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs104894884
rs104894884 		0.882 0.040 X 119871933 missense variant G/C snv
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs104894884
rs104894884 		0.882 0.040 X 119871933 missense variant G/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2007 2007
dbSNP: rs104894885
rs104894885 		0.851 0.120 X 119873312 missense variant G/A;C snv
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 2007 2007
dbSNP: rs104894885
rs104894885 		0.851 0.120 X 119873312 missense variant G/A;C snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs104894885
rs104894885 		0.851 0.120 X 119873312 missense variant G/A;C snv
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs104894885
rs104894885 		0.851 0.120 X 119873312 missense variant G/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2007 2007
dbSNP: rs1801316
rs1801316 		1.000 X 119872005 missense variant G/A;C;T snv 5.5E-06; 5.7E-03
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		0.010 1.000 1 2009 2009
dbSNP: rs794726863
rs794726863 		0.882 0.160 X 119870713 stop gained G/A snv
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2020 2020
dbSNP: rs794726863
rs794726863 		0.882 0.160 X 119870713 stop gained G/A snv
CUI: C1848901
Disease: TESTES, RUDIMENTARY
TESTES, RUDIMENTARY 		0.010 1.000 1 2020 2020