rs375305567, POLG

N. diseases: 2
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 0.925 0.200 15 89325519 missense variant C/T snv 3.2E-05 7.7E-05 0.700 1.000 3 2005 2007
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
15 0.925 0.200 15 89325519 missense variant C/T snv 3.2E-05 7.7E-05 0.700 0