POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
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: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2007 2019
dbSNP: rs121918046
rs121918046 		0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121918046
rs121918046 		0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.010 1.000 1 2019 2019
dbSNP: rs121918046
rs121918046 		0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121918054
rs121918054 		0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs780953863
rs780953863 		1.000 0.080 15 89329040 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 44 2001 2018
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		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 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		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 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0234378
Disease: Static Tremor
Static Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0027066
Disease: Myoclonus
Myoclonus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095 		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 		Digestive System Diseases 0.710 1.000 41 2001 2018
dbSNP: rs145289229
rs145289229 		0.925 0.080 15 89328532 missense variant G/C snv 1.7E-03 1.9E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs145289229
rs145289229 		0.925 0.080 15 89328532 missense variant G/C snv 1.7E-03 1.9E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs201477273
rs201477273 		0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2018 2018
dbSNP: rs2307441
rs2307441 		0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs2307441
rs2307441 		0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02
CUI: C3888789
Disease: Pancreatic toxicity
Pancreatic toxicity 		0.010 < 0.001 1 2018 2018
dbSNP: rs3087374
rs3087374 		0.882 0.080 15 89316763 missense variant C/A snv 6.1E-02 6.2E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 < 0.001 1 2018 2018