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: rs1567185026
rs1567185026
POLG
1.000 0.080 15 89318575 frameshift variant -/A delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs778115255
rs778115255
POLG ; FANCI
1.000 0.080 15 89317525 frameshift variant -/AACA delins 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1283198587
rs1283198587
POLG
1.000 0.080 15 89321184 frameshift variant -/C delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1555452461
rs1555452461
POLG
1.000 0.080 15 89318613 frameshift variant -/C delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567183122
rs1567183122
POLG ; FANCI
1.000 0.080 15 89316797 frameshift variant -/C delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567185048
rs1567185048
POLG
1.000 0.080 15 89318589 frameshift variant -/CTCC delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567187103
rs1567187103
POLG
1.000 0.080 15 89321789 frameshift variant -/GC delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1064794213
rs1064794213
POLG
1.000 0.080 15 89318961 inframe insertion -/GGC delins 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1282521429
rs1282521429
POLG
1.000 0.080 15 89323438 frameshift variant -/GTCCACGTCGTTGT delins 1.4E-05
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs1567192884
rs1567192884
POLG
1.000 0.080 15 89330237 stop gained -/T delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
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: rs1567179036
rs1567179036
POLG ; FANCI
1.000 0.120 15 89312913 frameshift variant A/- delins
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 0
dbSNP: rs1567193844
rs1567193844
POLG
1.000 0.080 15 89333109 frameshift variant A/- del
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs796052919
rs796052919
POLG
1.000 0.080 15 89322773 frameshift variant A/- delins
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.700 0
dbSNP: rs121918044
rs121918044
POLG
0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05
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: 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: rs121918044
rs121918044
POLG
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) 		0.700 1.000 1 2001 2001
dbSNP: rs121918044
rs121918044
POLG
0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.700 0
dbSNP: rs121918044
rs121918044
POLG
0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0