Gene: PRKN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34424986
rs34424986
PRKN
0.720 GeneticVariation BEFREE Among all lung cancer-linked mutants that we tested, A46T Parkin failed to translocate onto mitochondria and could not recruit downstream mitophagic regulators, including optineurin (OPTN) and TFEB, whereas N254S and R275W Parkin displayed slower mitochondrial translocation than WT Parkin. 31285534

2020
dbSNP: rs34424986
rs34424986
PRKN
0.720 GeneticVariation BEFREE The effect size for PARK2 c.823C>T (odds ratio = 5.24) in white individuals was larger than those reported for variants from lung cancer genome-wide association studies. 25640678

2015
dbSNP: rs34424986
rs34424986
PRKN
A 0.720 CausalMutation CLINVAR

dbSNP: rs139600787
rs139600787
PRKN
0.010 GeneticVariation BEFREE Among all lung cancer-linked mutants that we tested, A46T Parkin failed to translocate onto mitochondria and could not recruit downstream mitophagic regulators, including optineurin (OPTN) and TFEB, whereas N254S and R275W Parkin displayed slower mitochondrial translocation than WT Parkin. 31285534

2020
dbSNP: rs577876
rs577876
PRKN
0.010 GeneticVariation BEFREE A further comprehensive validation of 114 informative single nucleotide polymorphism (SNP) variants of PARK2, in 2,484 cases and controls with well-defined lung cancer and COPD phenotypes, found rs577876, rs6455728 and rs9346917 (p<0.01) to be significantly associated with lung cancer development in people with COPD. 27329585

2016
dbSNP: rs6455728
rs6455728
PRKN
0.010 GeneticVariation BEFREE A further comprehensive validation of 114 informative single nucleotide polymorphism (SNP) variants of PARK2, in 2,484 cases and controls with well-defined lung cancer and COPD phenotypes, found rs577876, rs6455728 and rs9346917 (p<0.01) to be significantly associated with lung cancer development in people with COPD. 27329585

2016
dbSNP: rs9346917
rs9346917
PRKN
0.010 GeneticVariation BEFREE A further comprehensive validation of 114 informative single nucleotide polymorphism (SNP) variants of PARK2, in 2,484 cases and controls with well-defined lung cancer and COPD phenotypes, found rs577876, rs6455728 and rs9346917 (p<0.01) to be significantly associated with lung cancer development in people with COPD. 27329585

2016
dbSNP: rs766948045
rs766948045
PRKN
0.010 GeneticVariation BEFREE The effect size for PARK2 c.823C>T (odds ratio = 5.24) in white individuals was larger than those reported for variants from lung cancer genome-wide association studies. 25640678

2015