rs113994098, POLG

N. diseases: 10
Source: CURATED ×
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 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.800 1.000 20 2002 2014
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
27 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.800 1.000 14 2001 2006
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
17 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.800 1.000 2 2003 2009
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
181 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 3 2002 2011
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
13 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 3 2002 2011
Seizures
CUI: C0036572
Disease: Seizures
417 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 2 2002 2011
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
89 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 1 2009 2009
Mitochondrial DNA Depletion Syndrome 1
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
78 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 0
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
CUI: C1868097
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
2 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 0
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
15 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 0