POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Ataxia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2307441
rs2307441 		0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010