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: rs1057518882
rs1057518882 		MT 14598 missense variant T/C snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.700 0
dbSNP: rs1057518882
rs1057518882 		MT 14598 missense variant T/C snv
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434453
rs121434453 		0.882 0.320 MT 14709 non coding transcript exon variant T/C snv
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121434453
rs121434453 		0.882 0.320 MT 14709 non coding transcript exon variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121434453
rs121434453 		0.882 0.320 MT 14709 non coding transcript exon variant T/C snv
CUI: C4016608
Disease: MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS 		0.700 0
dbSNP: rs1556424691
rs1556424691 		0.851 0.200 MT 15923 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 0
dbSNP: rs193302982
rs193302982 		1.000 0.080 MT 14783 synonymous variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs193302983
rs193302983 		1.000 0.080 MT 14905 synonymous variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs193302985
rs193302985 		1.000 0.080 MT 15043 synonymous variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs193302991
rs193302991 		1.000 0.080 MT 15301 synonymous variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs193302996
rs193302996 		1.000 0.120 MT 15607 synonymous variant A/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs193302997
rs193302997 		1.000 0.120 MT 15670 synonymous variant T/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs199474699
rs199474699 		MT 15990 non coding transcript exon variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199474701
rs199474701 		0.925 0.200 MT 15967 non coding transcript exon variant G/A snv
CUI: C4016625
Disease: MERFF SYNDROME
MERFF SYNDROME 		0.700 0
dbSNP: rs199474701
rs199474701 		0.925 0.200 MT 15967 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 0
dbSNP: rs199476105
rs199476105 		0.851 0.200 MT 14459 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 0.700 0
dbSNP: rs199476105
rs199476105 		0.851 0.200 MT 14459 missense variant G/A snv
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199476109
rs199476109 		0.882 0.120 MT 14487 missense variant T/C snv
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs199476109
rs199476109 		0.882 0.120 MT 14487 missense variant T/C snv
CUI: C1838954
Disease: STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA 		0.700 0
dbSNP: rs200336777
rs200336777 		1.000 0.160 MT 15812 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 0.700 0
dbSNP: rs207459995
rs207459995 		1.000 0.080 MT 14985 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
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: rs207459997
rs207459997 		0.925 MT 15615 missense variant G/A snv
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.700 0
dbSNP: rs207459998
rs207459998 		1.000 MT 14846 missense variant G/A snv
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.700 0
dbSNP: rs207459999
rs207459999 		0.925 0.160 MT 15242 stop gained G/A snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0