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: rs113994094
rs113994094
POLG
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 1.000 2 2003 2009
dbSNP: rs113994096
rs113994096
POLG
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 1.000 2 2003 2009
dbSNP: rs113994098
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 1.000 2 2003 2009
dbSNP: rs121918050
rs121918050
POLG
1.000 15 89321743 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 1.000 2 2003 2009
dbSNP: rs121918056
rs121918056
POLG
0.882 0.080 15 89330257 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.800 1.000 2 2003 2009
dbSNP: rs2307449
rs2307449
POLG
15 89320697 intron variant T/G snv 0.47
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.800 1.000 1 2012 2012
dbSNP: rs113994097
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.720 1.000 1 2006 2017
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.710 1.000 41 2001 2018
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.710 1.000 4 2010 2015
dbSNP: rs113994099
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.710 1.000 1 2007 2017
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