rs2307441, POLG

N. diseases: 6
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.
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.020 1.000 2 2006 2015
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.010 1.000 1 2010 2010
Ataxia Neuropathy Spectrum
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
2 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.010 1.000 1 2006 2006
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.010 1.000 1 2010 2010
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.010 1 2018 2018
Pancreatic toxicity
CUI: C3888789
Disease: Pancreatic toxicity
2 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.010 1 2018 2018