Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs749838192
rs749838192
22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 1 2010 2010
dbSNP: rs11479
rs11479
0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2007 2007
dbSNP: rs1556488264
rs1556488264
0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.700 0
dbSNP: rs1556488264
rs1556488264
0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis
0.700 0
dbSNP: rs1556488264
rs1556488264
0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility
0.700 0
dbSNP: rs1556488264
rs1556488264
0.925 0.120 22 50527165 inframe deletion AGC/- delins
Mitochondrial DNA Depletion Syndrome 1
0.700 0
dbSNP: rs74315510
rs74315510
0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.700 0
dbSNP: rs74315510
rs74315510
0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 0
dbSNP: rs74315511
rs74315511
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs74315511
rs74315511
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.800 1.000 0 2013 2015
dbSNP: rs74315511
rs74315511
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
0.800 1.000 0 1999 2015
dbSNP: rs74315511
rs74315511
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
0.700 0
dbSNP: rs761665644
rs761665644
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.700 0
dbSNP: rs761665644
rs761665644
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 0
dbSNP: rs761665644
rs761665644
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis
0.700 0
dbSNP: rs761665644
rs761665644
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility
0.700 0
dbSNP: rs121913036
rs121913036
1.000 22 50526638 missense variant T/G snv 5.3E-05 4.9E-05
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 5 1999 2013
dbSNP: rs121913040
rs121913040
1.000 22 50526474 missense variant C/A;G;T snv 1.2E-05; 1.2E-05
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 2005 2011
dbSNP: rs121913041
rs121913041
1.000 22 50527629 missense variant C/G;T snv 4.0E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 2005 2009
dbSNP: rs797044455
rs797044455
1.000 22 50526142 splice acceptor variant C/G;T snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 2 1999 2000
dbSNP: rs1060499532
rs1060499532
1.000 22 50526338 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1060499533
rs1060499533
1.000 22 50526293 missense variant A/G snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2003 2003
dbSNP: rs1060499534
rs1060499534
1.000 22 50526246 missense variant C/T snv 7.1E-06
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2011 2011
dbSNP: rs1060499535
rs1060499535
1.000 22 50526317 frameshift variant C/- delins
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2009 2009
dbSNP: rs1064792865
rs1064792865
1.000 22 50527716 start lost A/C snv
Mitochondrial DNA Depletion Syndrome 1
0.700 1.000 1 2000 2000