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: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.840 1.000 17 2001 2016
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.830 1.000 16 2004 2014
dbSNP: rs267606959
rs267606959 		0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.710 1.000 4 2010 2015
dbSNP: rs113994098
rs113994098 		0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.800 1.000 20 2002 2014
dbSNP: rs144500145
rs144500145 		0.807 0.240 15 89321780 missense variant G/A snv 4.8E-05 6.3E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 9 2006 2012
dbSNP: rs201732356
rs201732356 		0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.800 1.000 9 2003 2014
dbSNP: rs121918054
rs121918054 		0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 6 2006 2014
dbSNP: rs121918044
rs121918044 		0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2001 2001
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: 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: rs201477273
rs201477273 		0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2007 2010
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: rs41549716
rs41549716 		0.882 0.200 15 89321842 missense variant T/C snv 6.6E-03 7.0E-03
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 7 2004 2014
dbSNP: rs769827124
rs769827124 		0.882 0.200 15 89322749 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 6 2003 2011
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: 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: rs121918048
rs121918048 		0.882 0.200 15 89320953 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 2003 2003
dbSNP: rs796052908
rs796052908 		0.882 0.160 15 89327329 frameshift variant AG/- delins 4.0E-06 1.4E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2003 2003
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: 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: rs375305567
rs375305567 		0.925 0.200 15 89325519 missense variant C/T snv 3.2E-05 7.7E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 3 2005 2007
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: rs121918049
rs121918049 		0.925 0.200 15 89319053 missense variant C/A;G;T snv 3.2E-05; 2.0E-05; 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2004 2004
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