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: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.700 1.000 2 2010 2011
dbSNP: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas 		0.700 1.000 2 2010 2011
dbSNP: rs1054875
rs1054875
POLG
15 89335895 non coding transcript exon variant A/G;T snv
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
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: rs113994098
rs113994098
POLG
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) 		0.800 1.000 20 2002 2014
dbSNP: rs139590686
rs139590686
POLG
0.925 0.080 15 89321007 missense variant T/C;G snv 1.1E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 1.000 20 2004 2017
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
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) 		0.840 1.000 13 2001 2016
dbSNP: rs113994097
rs113994097
POLG
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) 		0.830 1.000 13 2004 2014
dbSNP: rs113994094
rs113994094
POLG
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) 		0.800 1.000 12 2002 2014
dbSNP: rs113994096
rs113994096
POLG
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) 		0.800 1.000 12 2003 2014
dbSNP: rs144500145
rs144500145
POLG
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) 		0.700 1.000 9 2006 2012
dbSNP: rs201732356
rs201732356
POLG
0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.800 1.000 9 2003 2014
dbSNP: rs138929605
rs138929605
POLG
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) 		0.700 1.000 7 2008 2015
dbSNP: rs368435864
rs368435864
POLG
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) 		0.800 1.000 7 2004 2014
dbSNP: rs41549716
rs41549716
POLG
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) 		0.700 1.000 7 2004 2014
dbSNP: rs121918054
rs121918054
POLG
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) 		0.700 1.000 6 2006 2014
dbSNP: rs769827124
rs769827124
POLG
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) 		0.700 1.000 6 2003 2011
dbSNP: rs121918056
rs121918056
POLG
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) 		0.700 1.000 5 2003 2014
dbSNP: rs142347031
rs142347031
POLG
1.000 0.080 15 89320850 stop lost A/C snv 1.2E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 5 2006 2013
dbSNP: rs796052887
rs796052887
POLG
1.000 0.080 15 89322748 missense variant C/G;T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 5 2003 2017
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: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.710 1.000 4 2010 2015
dbSNP: rs201477273
rs201477273
POLG
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) 		0.700 1.000 3 2007 2010
dbSNP: rs375305567
rs375305567
POLG
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) 		0.700 1.000 3 2005 2007
dbSNP: rs775445970
rs775445970
POLG
1.000 0.080 15 89321783 missense variant T/C snv 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 3 2008 2009