POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: POLG mutation ×
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: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2010 2010
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2007 2007
dbSNP: rs113994099
rs113994099 		0.827 0.240 15 89320883 missense variant T/C snv
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2007 2007
dbSNP: rs201477273
rs201477273 		0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2018 2018
dbSNP: rs267606959
rs267606959 		0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2010 2010