POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Mitochondrial DNA Depletion Syndrome 1 ×
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: rs113994094
rs113994094 		0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs113994096
rs113994096 		0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs113994098
rs113994098 		0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs121918044
rs121918044 		0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs144500145
rs144500145 		0.807 0.240 15 89321780 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs201732356
rs201732356 		0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0