rs121918054, POLG

N. diseases: 8
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.
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
27 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.800 1.000 14 2001 2006
Seizures
CUI: C0036572
Disease: Seizures
553 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 1.000 9 2006 2015
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 1.000 6 2006 2014
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 1.000 1 2017 2017
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
17 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 0
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
13 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 0
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
15 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.700 0
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06 0.010 1.000 1 2019 2019