rs4665972
This is a regulatory region variant variant in the SNX17 gene.
▶GWAS Catalog Trait Associations (161)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (161)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
sex hormone-binding globulin measurement
triglyceride measurement
triglyceride measurement, alcohol drinking
triglyceride measurement, alcohol consumption quality
triglycerides in very large HDL measurement
phospholipids in small VLDL measurement
cholesteryl ester measurement
phospholipids in medium VLDL measurement
serum creatinine amount
1-stearoyl-GPE (18:0) measurement
▶Research that mentions this SNP (1)
▶Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis BAssociationN=6,033Jiang DK et al.(2015)· Hepatology
A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.
About SNX17
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
View all SNX17 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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