POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Depletion of mitochondrial DNA ×
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: rs138929605
rs138929605 		0.882 0.080 15 89330106 missense variant T/A;C;G snv 3.8E-04; 2.0E-05
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.700 1.000 10 2008 2017
dbSNP: rs121918046
rs121918046 		0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.010 1.000 1 2019 2019