POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Alpers Syndrome (disorder) ×
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: rs1001570418
rs1001570418 		1.000 0.080 15 89325609 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1003442806
rs1003442806 		1.000 0.080 15 89322875 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518035
rs1057518035 		1.000 0.080 15 89317538 splice acceptor variant T/C snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1064794213
rs1064794213 		1.000 0.080 15 89318961 inframe insertion -/GGC delins 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs113994099
rs113994099 		0.827 0.240 15 89320883 missense variant T/C snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs11546842
rs11546842 		0.925 0.200 15 89320890 missense variant G/A snv 2.4E-05 1.1E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918047
rs121918047 		1.000 0.080 15 89321242 stop gained C/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1254855971
rs1254855971 		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) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1282521429
rs1282521429 		1.000 0.080 15 89323438 frameshift variant -/GTCCACGTCGTTGT delins 1.4E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1283198587
rs1283198587 		1.000 0.080 15 89321184 frameshift variant -/C delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1356604153
rs1356604153 		1.000 0.080 15 89321253 missense variant C/T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs138917386
rs138917386 		1.000 0.080 15 89319227 splice donor variant C/T snv 4.0E-06 4.9E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs139717885
rs139717885 		1.000 0.080 15 89325610 missense variant G/A;C snv 2.8E-05 7.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs140079523
rs140079523 		1.000 0.080 15 89318962 missense variant C/G;T snv 8.0E-06; 1.2E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1405268319
rs1405268319 		1.000 0.080 15 89318640 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1447799185
rs1447799185 		1.000 0.080 15 89319049 frameshift variant C/-;CC;CCCC delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555452461
rs1555452461 		1.000 0.080 15 89318613 frameshift variant -/C delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555452607
rs1555452607 		1.000 0.080 15 89319240 frameshift variant CT/- delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567183122
rs1567183122 		1.000 0.080 15 89316797 frameshift variant -/C delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567183988
rs1567183988 		1.000 0.080 15 89317447 missense variant T/C snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567184117
rs1567184117 		1.000 0.080 15 89317496 stop gained G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567185026
rs1567185026 		1.000 0.080 15 89318575 frameshift variant -/A delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567185048
rs1567185048 		1.000 0.080 15 89318589 frameshift variant -/CTCC delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567185178
rs1567185178 		1.000 0.080 15 89318685 missense variant A/G snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567185468
rs1567185468 		1.000 0.080 15 89318975 missense variant A/C snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 0