CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
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: rs199476104
rs199476104 		0.925 0.160 MT 14484 missense variant T/C 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 0.810 1.000 7 1992 2001
dbSNP: rs199476108
rs199476108 		1.000 0.160 MT 14482 missense variant C/A;G 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 0.810 1.000 6 1992 2002
dbSNP: rs199476106
rs199476106 		1.000 0.160 MT 14495 missense variant A/G 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 0.800 1.000 5 1992 2001
dbSNP: rs397515506
rs397515506 		1.000 0.160 MT 14568 missense variant C/T 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 0.800 1.000 5 1992 2001
dbSNP: rs199476109
rs199476109 		0.882 0.120 MT 14487 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 4 2003 2005
dbSNP: rs267606894
rs267606894 		1.000 0.200 MT 12770 missense variant A/G snv
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 0.800 1.000 4 1997 2007
dbSNP: rs267606895
rs267606895 		0.882 0.240 MT 13045 missense variant A/C snv
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 0.800 1.000 4 1997 2007
dbSNP: rs267606897
rs267606897 		0.882 0.200 MT 13513 missense variant G/A snv
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 0.800 1.000 4 1997 2007
dbSNP: rs267606898
rs267606898 		0.851 0.240 MT 13042 missense variant G/A snv
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 0.800 1.000 4 1997 2007
dbSNP: rs267606899
rs267606899 		1.000 0.160 MT 12848 missense variant C/T 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 0.800 1.000 4 1991 2005
dbSNP: rs387906425
rs387906425 		1.000 0.160 MT 13730 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 0.800 1.000 4 1991 2005
dbSNP: rs199476105
rs199476105 		0.851 0.200 MT 14459 missense variant G/A snv
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.800 1.000 2 1994 1996
dbSNP: rs387906424
rs387906424 		0.925 0.200 MT 14596 missense variant A/T snv
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.800 1.000 2 1994 1996
dbSNP: rs199476107
rs199476107 		0.925 0.200 MT 14453 missense variant G/A snv
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 0.800 1.000 1 2001 2001
dbSNP: rs207459996
rs207459996 		1.000 0.080 MT 15572 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 0
dbSNP: rs267606897
rs267606897 		0.882 0.200 MT 13513 missense variant G/A snv
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 6 1997 2004
dbSNP: rs869025186
rs869025186 		1.000 0.160 MT 14498 missense variant T/C 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 1.000 5 1992 2001
dbSNP: rs1556424691
rs1556424691 		0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691 		0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691 		0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691 		0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691 		0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691 		0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691 		0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691 		0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 1993 2018