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: rs121918045
rs121918045
POLG
1.000 15 89333747 missense variant C/G snv
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.800 1.000 14 2001 2006
dbSNP: rs121918048
rs121918048
POLG
0.882 0.200 15 89320953 missense variant G/A snv
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: rs121918046
rs121918046
POLG
0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 1.000 9 2003 2006
dbSNP: rs121918048
rs121918048
POLG
0.882 0.200 15 89320953 missense variant G/A snv
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		0.800 1.000 9 2003 2006
dbSNP: rs113994099
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.800 1.000 7 2002 2008
dbSNP: rs121918055
rs121918055
POLG ; MIR6766
0.925 0.200 15 89326965 missense variant C/T snv
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		0.800 1.000 7 2002 2008
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: 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: rs1555453538
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins
CUI: C0013595
Disease: Eczema
Eczema 		0.700 1.000 3 2010 2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins
CUI: C0009806
Disease: Constipation
Constipation 		0.700 1.000 3 2010 2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 1.000 3 2010 2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins
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 3 2010 2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 3 2010 2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.700 1.000 3 2010 2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 1.000 3 2010 2017
dbSNP: rs1567186613
rs1567186613
POLG
1.000 0.080 15 89320919 missense variant C/T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 2 2006 2009
dbSNP: rs1567186614
rs1567186614
POLG
1.000 0.080 15 89320920 missense variant G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 2 2008 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: rs1064794214
rs1064794214
POLG
1.000 0.080 15 89325525 missense variant G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2011 2011
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: rs113994099
rs113994099
POLG
0.827 0.240 15 89320883 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.710 1.000 1 2007 2017
dbSNP: rs121918048
rs121918048
POLG
0.882 0.200 15 89320953 missense variant G/A snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2003 2003
dbSNP: rs1567192879
rs1567192879
POLG
1.000 0.080 15 89330231 stop gained C/T snv
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2007 2007
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: 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