COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
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: rs267606884
rs267606884
1.000 0.080 MT 7275 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.800 1.000 2 2006 2009
dbSNP: rs281865417
rs281865417
1.000 0.080 MT 6277 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.800 1.000 2 2006 2009
dbSNP: rs199474827
rs199474827
1.000 0.080 MT 7671 missense variant T/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 1999 1999
dbSNP: rs387906422
rs387906422
0.925 0.040 MT 8528 start lost T/C snv
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
0.800 1.000 1 2009 2009
dbSNP: rs199474826
rs199474826
1.000 0.080 MT 8009 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.800 0
dbSNP: rs118192098
rs118192098
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 8 2003 2009
dbSNP: rs199474818
rs199474818
0.882 0.320 MT 7445 stop lost A/C;G;T snv
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 1994 2008
dbSNP: rs387906419
rs387906419
0.925 0.200 MT 7497 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 4 1998 2010
dbSNP: rs111033319
rs111033319
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2005
dbSNP: rs118192098
rs118192098
0.851 0.200 MT 8344 non coding transcript exon 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 1.000 2 1991 1993
dbSNP: rs121434458
rs121434458
1.000 0.200 MT 5591 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 2006 2009
dbSNP: rs199474820
rs199474820
1.000 0.120 MT 7510 non coding transcript exon variant T/C snv
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2000 2002
dbSNP: rs267606883
rs267606883
0.925 0.080 MT 6328 missense variant C/T snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2002 2006
dbSNP: rs387906422
rs387906422
0.925 0.040 MT 8528 start lost T/C snv
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy
Cardiovascular Diseases 0.700 1.000 2 2009 2016
dbSNP: rs1057516062
rs1057516062
1.000 0.080 MT 8418 missense variant T/C snv
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy
Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs111033319
rs111033319
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
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: rs118192098
rs118192098
0.851 0.200 MT 8344 non coding transcript exon 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 0.700 1.000 1 1991 1991
dbSNP: rs118192099
rs118192099
0.882 0.200 MT 8356 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 1992 1992
dbSNP: rs118192100
rs118192100
0.882 0.200 MT 8363 non coding transcript exon 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 1 2000 2000
dbSNP: rs118192100
rs118192100
0.882 0.200 MT 8363 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 1 1996 1996
dbSNP: rs118192104
rs118192104
1.000 0.160 MT 8361 non coding transcript exon variant G/A snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2003 2003
dbSNP: rs1569484151
rs1569484151
1.000 0.120 MT 7462 non coding transcript exon variant C/T snv
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs199474817
rs199474817
0.882 0.200 MT 7512 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: rs199474818
rs199474818
0.882 0.320 MT 7445 stop lost A/C;G;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 1.000 1 1994 1994
dbSNP: rs199474821
rs199474821
0.925 0.280 MT 7511 non coding transcript exon variant T/C snv
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 1999 1999