rs865716

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

phospholipid level

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.03
p 2.0e-16
N 115,006
Large GWAS
European

choline measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.03
p 4.0e-15
N 115,006
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.03
p 4.0e-13
N 88,268
Large GWAS
European

lipoprotein measurement, phospholipid level

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.03
p 3.0e-13
N 115,082
Large GWAS
European
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Research that mentions this SNP (1)

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Microarray analysis of multiple candidate genes and associated plasma proteins for nephropathy secondary to type 2 diabetes among Chinese individuals
AssociationN=932Lim SC et al.(2009)· Diabetologia

A case-control candidate gene study of 932 Chinese individuals (487 diabetic nephropathy cases, 445 controls) genotyped for 914 SNPs across 43 candidate genes identified common variants in NOX4 (GGCC haplotype OR=2.05-2.48, p=0.0055), endothelin-1 (rs1476046G>A OR=1.26-1.87, p=0.0072), and NOS1 (TGTC haplotype OR=1.26-1.57, p=0.0073) associated with diabetic nephropathy, plus a rare NOX1 coding variant (rs2071756G>A, R315H) found exclusively in cases. Variants correlated with differential plasma protein concentrations.

Traits studied:Diabetic nephropathyType 2 diabetes
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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