Source: CURATED

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: rs139590686
rs139590686
POLG
0.925 0.080 15 89321007 missense variant T/C;G snv 1.1E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 1.000 20 2004 2017
dbSNP: rs121918045
rs121918045
POLG
1.000 15 89333747 missense variant C/G snv
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.800 1.000 14 2001 2006
dbSNP: rs121918048
rs121918048
POLG
0.882 0.200 15 89320953 missense variant G/A snv
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 1.000 14 2001 2006
dbSNP: rs121918054
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.800 1.000 14 2001 2006
dbSNP: rs201732356
rs201732356
POLG
0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.800 1.000 14 2001 2006
dbSNP: rs556925652
rs556925652
POLG
1.000 15 89325664 missense variant G/A snv 2.0E-05
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 1.000 14 2001 2006
dbSNP: rs753410045
rs753410045
POLG
1.000 15 89318710 missense variant C/G;T snv 2.0E-05
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 1.000 14 2001 2006
dbSNP: rs781168350
rs781168350
POLG ; MIR6766
1.000 15 89326639 missense variant C/T snv 4.0E-06
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 1.000 14 2001 2006
dbSNP: rs121918052
rs121918052
POLG ; MIR6766
1.000 0.160 15 89327006 missense variant C/G;T snv 1.3E-04; 8.0E-06
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.700 1.000 10 2003 2016
dbSNP: rs138929605
rs138929605
POLG
0.882 0.080 15 89330106 missense variant T/A;C;G snv 3.8E-04; 2.0E-05
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.700 1.000 10 2008 2017
dbSNP: rs121918048
rs121918048
POLG
0.882 0.200 15 89320953 missense variant G/A snv
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 1.000 9 2003 2006
dbSNP: rs121918049
rs121918049
POLG
0.925 0.200 15 89319053 missense variant C/A;G;T snv 3.2E-05; 2.0E-05; 4.0E-06
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 1.000 9 2003 2006
dbSNP: rs121918054
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 9 2006 2015
dbSNP: rs201732356
rs201732356
POLG
0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 1.000 9 2003 2014
dbSNP: rs368435864
rs368435864
POLG
1.000 0.080 15 89318736 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 9 2006 2013
dbSNP: rs61752783
rs61752783
POLG ; MIR6766
0.882 0.200 15 89326947 missense variant C/A;G snv 4.8E-03; 2.0E-05
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.700 1.000 9 2003 2006
dbSNP: rs113994099
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.800 1.000 7 2002 2008
dbSNP: rs121918051
rs121918051
POLG
1.000 0.160 15 89320878 missense variant C/A;G snv 4.0E-06
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.800 1.000 7 2002 2008
dbSNP: rs121918055
rs121918055
POLG ; MIR6766
0.925 0.200 15 89326965 missense variant C/T snv
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.800 1.000 7 2002 2008
dbSNP: rs138929605
rs138929605
POLG
0.882 0.080 15 89330106 missense variant T/A;C;G snv 3.8E-04; 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 7 2008 2015
dbSNP: rs368435864
rs368435864
POLG
1.000 0.080 15 89318736 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 1.000 7 2004 2014
dbSNP: rs776031396
rs776031396
POLG ; FANCI
1.000 0.160 15 89317492 stop gained G/A;T snv 8.0E-06
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.700 1.000 7 2002 2008
dbSNP: rs121918054
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 6 2006 2014
dbSNP: rs142347031
rs142347031
POLG
1.000 0.080 15 89320850 stop lost A/C snv 1.2E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 5 2006 2013
dbSNP: rs796052887
rs796052887
POLG
1.000 0.080 15 89322748 missense variant C/G;T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 5 2003 2017