DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) ×
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: rs104893631
rs104893631 		1.000 2 73946888 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.800 1.000 2 2002 2005
dbSNP: rs104893632
rs104893632 		1.000 2 73957212 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.800 1.000 2 2002 2005
dbSNP: rs587780587
rs587780587 		1.000 2 73946750 missense variant T/C snv 4.0E-06
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 1.000 2 1997 2001
dbSNP: rs104893630
rs104893630 		1.000 2 73946776 stop gained C/T snv 4.0E-06
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 0
dbSNP: rs104893633
rs104893633 		0.925 0.080 2 73958201 missense variant G/T snv 4.0E-06
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 0
dbSNP: rs1204316787
rs1204316787 		1.000 2 73938922 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 0
dbSNP: rs748597500
rs748597500 		0.882 2 73950732 splice region variant G/A snv 4.0E-05 4.9E-05
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 0
dbSNP: rs749464475
rs749464475 		1.000 2 73958187 missense variant T/C snv 3.2E-05 2.1E-05
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 0
dbSNP: rs763706988
rs763706988 		1.000 2 73958199 stop gained -/GATT delins 1.4E-05
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 0
dbSNP: rs863223949
rs863223949 		0.925 2 73957135 frameshift variant GA/- delins 8.0E-06
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 0
dbSNP: rs886037613
rs886037613 		1.000 2 73939018 frameshift variant A/- delins
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 0
dbSNP: rs886037615
rs886037615 		1.000 2 73957141 frameshift variant GT/- delins
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 		0.700 0