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: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 44 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0234378
Disease: Static Tremor
Static Tremor 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		0.700 1.000 41 2001 2018
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-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: 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: rs121918053
rs121918053
POLG
1.000 15 89321777 missense variant G/A snv 1.2E-05 2.8E-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: rs121918056
rs121918056
POLG
0.882 0.080 15 89330257 missense variant G/A snv 4.0E-06 7.0E-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: rs145843073
rs145843073
POLG ; MIR6766
0.882 0.080 15 89327198 missense variant T/C snv 4.7E-04 6.3E-04
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: rs2307440
rs2307440
POLG
1.000 15 89318587 missense variant G/A snv 1.9E-04 1.5E-04
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: 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: rs61752784
rs61752784
POLG
1.000 15 89330133 missense variant C/G snv 3.4E-03 3.6E-03
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: rs763393580
rs763393580
POLG
1.000 15 89321194 missense variant C/T snv 4.0E-05 2.1E-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