ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
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: 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: rs794726857
rs794726857
0.925 0.200 MT 8969 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 0.700 1.000 3 2014 2018
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: 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: 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
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 1999 1999
dbSNP: rs199476133
rs199476133
0.742 0.320 MT 8993 missense 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 0.010 1.000 1 2007 2007