rs113994097, POLG

N. diseases: 22
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.830 1.000 16 2004 2014
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
15 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.800 1.000 10 2003 2016
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.720 1.000 3 2006 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.700 1.000 6 2007 2019
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
2 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.700 0
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.030 1.000 3 2007 2010
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.030 1.000 3 2007 2010
Ataxia Neuropathy Spectrum
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
2 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.020 1.000 2 2006 2007
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.020 1.000 2 2011 2011
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
Liver Failure
CUI: C0085605
Disease: Liver Failure
20 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
POLG mutation
CUI: C3888962
Disease: POLG mutation
7 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2007 2007
Psychiatric symptom
CUI: C0233401
Disease: Psychiatric symptom
12 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
Ptosis
CUI: C0033377
Disease: Ptosis
12 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
Status Epilepticus
CUI: C0038220
Disease: Status Epilepticus
12 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008