CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Disease: MELAS Syndrome ×
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: 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: 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: rs199474701
rs199474701 		0.925 0.200 MT 15967 non coding transcript exon 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 0.700 1.000 2 2009 2009
dbSNP: rs121434453
rs121434453 		0.882 0.320 MT 14709 non coding transcript exon variant T/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 0.700 1.000 1 1995 1995
dbSNP: rs387906421
rs387906421 		0.925 0.200 MT 14674 non coding transcript exon variant T/C;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 0.700 1.000 1 2009 2009
dbSNP: rs267606896
rs267606896 		0.882 0.200 MT 13084 missense variant A/T 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 0.700 0