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: rs139590686
rs139590686 		0.925 0.080 15 89321007 missense variant T/C;G snv 1.1E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.800 1.000 20 2004 2017
dbSNP: rs113994094
rs113994094 		0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.800 1.000 12 2002 2014
dbSNP: rs113994096
rs113994096 		0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.800 1.000 12 2003 2014
dbSNP: rs138929605
rs138929605 		0.882 0.080 15 89330106 missense variant T/A;C;G snv 3.8E-04; 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 7 2008 2015
dbSNP: rs368435864
rs368435864 		1.000 0.080 15 89318736 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.800 1.000 7 2004 2014
dbSNP: rs121918056
rs121918056 		0.882 0.080 15 89330257 missense variant 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 1.000 5 2003 2014
dbSNP: rs142347031
rs142347031 		1.000 0.080 15 89320850 stop lost A/C snv 1.2E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 5 2006 2013
dbSNP: rs796052887
rs796052887 		1.000 0.080 15 89322748 missense variant C/G;T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 5 2003 2017
dbSNP: rs1131691575
rs1131691575 		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) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 4 2006 2010
dbSNP: rs775445970
rs775445970 		1.000 0.080 15 89321783 missense variant T/C snv 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2008 2009
dbSNP: rs145843073
rs145843073 		0.882 0.080 15 89327198 missense variant T/C snv 4.7E-04 6.3E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 2 2004 2006
dbSNP: rs1567186613
rs1567186613 		1.000 0.080 15 89320919 missense variant C/T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 2 2006 2009
dbSNP: rs1567186614
rs1567186614 		1.000 0.080 15 89320920 missense variant G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 2 2008 2011
dbSNP: rs202037973
rs202037973 		1.000 0.080 15 89323423 missense variant A/G snv 4.4E-05 2.3E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 2 2006 2011
dbSNP: rs771623994
rs771623994 		1.000 0.080 15 89327166 splice donor variant C/T snv 4.0E-06 4.2E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 2 2008 2011
dbSNP: rs796052906
rs796052906 		0.925 0.080 15 89325456 missense variant G/C snv 8.3E-06 7.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 2 2006 2011
dbSNP: rs1064794214
rs1064794214 		1.000 0.080 15 89325525 missense variant G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1085307741
rs1085307741 		1.000 0.080 15 89317446 missense variant C/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1567192879
rs1567192879 		1.000 0.080 15 89330231 stop gained C/T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs181860632
rs181860632 		1.000 0.080 15 89319065 missense variant G/A snv 4.0E-05 9.1E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs199759055
rs199759055 		1.000 0.080 15 89328699 missense variant G/A;T snv 3.6E-05; 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs753160398
rs753160398 		1.000 0.080 15 89320877 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs761649878
rs761649878 		0.925 0.080 15 89318738 missense variant G/C snv 1.2E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs766465907
rs766465907 		1.000 0.080 15 89329011 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs769410130
rs769410130 		0.925 0.080 15 89329051 missense variant G/A;C snv 8.1E-06; 1.2E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009