Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2238300
rs2238300
POLG ; FANCI
15 89308349 intron variant G/A snv 0.37
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014
dbSNP: rs2246900
rs2246900
POLG
1.000 0.040 15 89319135 intron variant T/C snv 0.37 0.32
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2012 2012
dbSNP: rs2307439
rs2307439
POLG
1.000 0.040 15 89323966 intron variant C/T snv 2.6E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2012 2012
dbSNP: rs2307449
rs2307449
POLG
15 89320697 intron variant T/G snv 0.47
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.800 1.000 1 2012 2012
dbSNP: rs776031396
rs776031396
POLG ; FANCI
1.000 0.160 15 89317492 stop gained G/A;T snv 8.0E-06
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.700 1.000 7 2002 2008
dbSNP: rs1567192879
rs1567192879
POLG
1.000 0.080 15 89330231 stop gained C/T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2007 2007
dbSNP: rs867038717
rs867038717
POLG
1.000 0.080 15 89323847 stop gained G/A;C snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2003 2003
dbSNP: rs960142425
rs960142425
POLG ; MIR6766
1.000 0.080 15 89328735 stop gained G/A snv 7.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs1057517891
rs1057517891
POLG
15 89333346 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1060501900
rs1060501900
POLG ; FANCI
1.000 0.120 15 89314671 stop gained T/A snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 0
dbSNP: rs121918047
rs121918047
POLG
1.000 0.080 15 89321242 stop gained C/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1254855971
rs1254855971
POLG
1.000 0.080 15 89323829 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567184117
rs1567184117
POLG ; FANCI
1.000 0.080 15 89317496 stop gained G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567185770
rs1567185770
POLG
1.000 0.080 15 89319265 stop gained G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567185775
rs1567185775
POLG
1.000 0.080 15 89319275 stop gained C/T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567191417
rs1567191417
POLG ; MIR6766
1.000 0.080 15 89327255 stop gained G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567192884
rs1567192884
POLG
1.000 0.080 15 89330237 stop gained -/T delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs202039305
rs202039305
POLG
1.000 0.080 15 89333553 stop gained G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs767708989
rs767708989
POLG
1.000 0.080 15 89318963 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs781256643
rs781256643
POLG ; FANCI
1.000 0.080 15 89317379 stop gained G/A;C snv 4.0E-06; 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 44 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		0.700 1.000 41 2001 2018
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		0.700 1.000 41 2001 2018