rs121918046, POLG

N. diseases: 4
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.
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
15 0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 0.800 1.000 9 2003 2006
Depletion of mitochondrial DNA
CUI: C0342782
Disease: Depletion of mitochondrial DNA
7 0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019