Source: CURATED

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: rs758597713
rs758597713
POLG ; FANCI
1.000 0.120 15 89306149 frameshift variant G/- delins 5.2E-05 6.3E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 0
dbSNP: rs770318990
rs770318990
POLG ; FANCI
1.000 0.120 15 89307644 frameshift variant GT/- delins 1.4E-05
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 0
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: rs1567179036
rs1567179036
POLG ; FANCI
1.000 0.120 15 89312913 frameshift variant A/- delins
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		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: rs121918163
rs121918163
POLG ; FANCI
1.000 0.120 15 89315319 missense variant G/A snv
CUI: C1836861
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP I
FANCONI ANEMIA, COMPLEMENTATION GROUP I 		0.800 1.000 3 2007 2007
dbSNP: rs864622739
rs864622739
POLG ; FANCI
1.000 0.120 15 89315390 splice donor variant G/A snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 0
dbSNP: rs1567183122
rs1567183122
POLG ; FANCI
1.000 0.080 15 89316797 frameshift variant -/C delins
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: rs772737979
rs772737979
POLG ; FANCI
1.000 0.080 15 89317405 missense variant C/A;G snv 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs1085307741
rs1085307741
POLG ; FANCI
1.000 0.080 15 89317446 missense variant C/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2006 2006
dbSNP: rs1567183988
rs1567183988
POLG ; FANCI
1.000 0.080 15 89317447 missense variant T/C snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs754844175
rs754844175
POLG ; FANCI
1.000 0.080 15 89317457 missense variant A/G;T snv 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 1.000 14 2001 2006
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 4 2006 2010
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 1.000 1 2017 2017
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: rs763205408
rs763205408
POLG ; FANCI
1.000 0.080 15 89317493 missense variant A/G snv 2.0E-05 2.8E-05
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: rs796052913
rs796052913
POLG ; FANCI
1.000 0.080 15 89317510 missense variant A/C snv 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs756325504
rs756325504
POLG ; FANCI
1.000 0.080 15 89317522 splice acceptor variant TAGGCAAACATGCACCTGA/- del 7.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs778115255
rs778115255
POLG ; FANCI
1.000 0.080 15 89317525 frameshift variant -/AACA delins 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1057518035
rs1057518035
POLG ; FANCI
1.000 0.080 15 89317538 splice acceptor variant T/C snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs548076633
rs548076633
POLG
1.000 0.080 15 89318553 missense variant T/C;G snv 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567185026
rs1567185026
POLG
1.000 0.080 15 89318575 frameshift variant -/A delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0