POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Parkinson Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994099
rs113994099
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE The clinical features of parkinsonism related to the Y955C mutation in a total of 16 patients, including our two cases, are indistinguishable from iPD. 23673011 2013
dbSNP: rs2246900
rs2246900
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE We provided evidence for strong association of four intronic SNPs of the POLG1 gene (new report: c.2070-12T>A and rs2307439: c.2070-64G>A in intron 11, P = 0.00011, OR = 1.727; rs2302084: c.3105-11T>C and rs2246900: c.3105-36A>G in intron 19, P = 0.00031, OR = 1.648) with PD. 23251356 2012
dbSNP: rs2307439
rs2307439
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE We provided evidence for strong association of four intronic SNPs of the POLG1 gene (new report: c.2070-12T>A and rs2307439: c.2070-64G>A in intron 11, P = 0.00011, OR = 1.727; rs2302084: c.3105-11T>C and rs2246900: c.3105-36A>G in intron 19, P = 0.00031, OR = 1.648) with PD. 23251356 2012