Gene: LIPA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1412444
rs1412444
LIPA
T 0.710 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs1412444
rs1412444
LIPA
T 0.710 GeneticVariation GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387

2015
dbSNP: rs1412444
rs1412444
LIPA
0.710 GeneticVariation BEFREE These results indicate that the rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD among different ethnicities. 24069331

2013
dbSNP: rs2246942
rs2246942
LIPA
A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778

2018
dbSNP: rs2246942
rs2246942
LIPA
G 0.700 GeneticVariation GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975

2017
dbSNP: rs1051338
rs1051338
LIPA
0.020 GeneticVariation BEFREE Further, we characterized a second common exonic coding variant (rs1051339), which is predicted to alter LIPA signal peptide cleavage similarly to rs1051338</span>, yet is not linked to intronic variants. rs1051339 also does not impact LIPA function in vitro and confers no coronary artery disease risk. 31645127

2019
dbSNP: rs1051338
rs1051338
LIPA
0.020 GeneticVariation BEFREE Our findings show that the coronary artery disease-associated coding variant rs1051338 causes reduced lysosomal LAL protein and activity because of increased LAL degradation, providing a plausible causal mechanism of increased coronary artery disease risk. 28279971

2017
dbSNP: rs1051339
rs1051339
LIPA
0.010 GeneticVariation BEFREE Further, we characterized a second common exonic coding variant (rs1051339), which is predicted to alter LIPA signal peptide cleavage similarly to rs1051338, yet is not linked to intronic variants. rs1051339 also does not impact LIPA function in vitro and confers no coronary artery disease risk. 31645127

2019
dbSNP: rs2246833
rs2246833
LIPA
0.010 GeneticVariation BEFREE These results indicate that the rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD among different ethnicities. 24069331

2013