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: rs1131691575
rs1131691575
POLG ; FANCI
0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 1.000 1 2017 2017
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 1.000 1 2017 2017
dbSNP: rs113994096
rs113994096
POLG
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 1.000 1 2017 2017
dbSNP: rs121918054
rs121918054
POLG
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 1.000 1 2017 2017
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: 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
dbSNP: rs113994094
rs113994094
POLG
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 2011 2015
dbSNP: rs778573169
rs778573169
POLG
1.000 0.080 15 89319225 splice region variant T/A;C snv 4.0E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2011 2013
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: rs753160398
rs753160398
POLG
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) 		0.700 1.000 1 2011 2011
dbSNP: rs766465907
rs766465907
POLG
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) 		0.700 1.000 1 2011 2011
dbSNP: rs778573169
rs778573169
POLG
1.000 0.080 15 89319225 splice region variant T/A;C snv 4.0E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs796052899
rs796052899
POLG
1.000 0.080 15 89333327 missense variant G/A snv 2.4E-05 3.5E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 1.000 1 2011 2011
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: 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: rs267606959
rs267606959
POLG
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		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: C0234985
Disease: Mental deterioration
Mental deterioration 		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: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia 		0.700 1.000 2 2010 2011