Gene: RPH3A

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.13

Description of this Gene: rabphilin 3A

Type of Gene: protein-coding

rs2891403 in RPH3A gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3948714 in RPH3A gene and Chloride measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2891403 in RPH3A gene and Coronary Artery Disease PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

rs886476 in RPH3A gene and Coronary heart disease PMID 21971053 2012 Genome-wide association study of coronary artery disease in the Japanese.

rs4766655 in RPH3A gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2384034 in RPH3A gene and High density lipoprotein measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

PMID 31006500 2020 Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people.

rs2384034 in RPH3A gene and Low density lipoprotein cholesterol measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs7970581 in RPH3A gene and Nerve Growth Factor Measurement PMID 27989323 2017 Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

rs17824620 in RPH3A gene and Platelet Count measurement PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

rs2384034 in RPH3A gene and Serum total cholesterol measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs233716 in RPH3A gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs2384034 in RPH3A gene and Triglycerides measurement PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.

rs11066390 in RPH3A gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.