Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs963553787
rs963553787
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs935602068
rs935602068
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041592
rs886041592
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041276
rs886041276
POLG
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs878854560
rs878854560
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs864622739
rs864622739
POLG ; FANCI
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796052919
rs796052919
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs796052913
rs796052913
POLG ; FANCI
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs796052906
rs796052906
POLG
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 GeneticVariation UNIPROT

dbSNP: rs796052888
rs796052888
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs781256643
rs781256643
POLG ; FANCI
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs778429780
rs778429780
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs778115255
rs778115255
POLG ; FANCI
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		GCAAA 0.700 CausalMutation CLINVAR

dbSNP: rs775576189
rs775576189
POLG ; MIR6766
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs774474723
rs774474723
POLG
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 GeneticVariation UNIPROT

dbSNP: rs771254207
rs771254207
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs770438363
rs770438363
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs770318990
rs770318990
POLG ; FANCI
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs769827124
rs769827124
POLG
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		A 0.700 CausalMutation CLINVAR

dbSNP: rs769410130
rs769410130
POLG
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		C 0.700 CausalMutation CLINVAR

dbSNP: rs769210629
rs769210629
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs768028281
rs768028281
POLG
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 GeneticVariation UNIPROT

dbSNP: rs767708989
rs767708989
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs767138032
rs767138032
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs765916932
rs765916932
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		C 0.700 GeneticVariation CLINVAR