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.

sex hormone-binding globulin measurement

Allele C
OR 0.04
p
N 368,929
Large GWAS
European
Allele C
OR 2.04
p 2.0e-9
N 36,203
Major Consortium StudyLarge GWAS
European
Allele C
OR 0.07
p 2.0e-10
N 13,893
Major Consortium StudyLarge GWAS
European

triglyceride measurement

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.18
p 9.9e-324
N 558,637
Major Consortium StudyLarge GWAS
multi-ancestry
de Vries PS et al. Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR
β 0.069
p 3.0e-146
N 71,394
Large GWAS
multi-ancestry
Allele T
OR 8.38
p 6.0e-97
N 58,701
Large GWAS
East Asian
Allele T
OR
β 0.065
p 1.0e-8
N 10,936
Large GWAS
multi-ancestry

triglyceride measurement, alcohol drinking

de Vries PS et al. Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR
p 2.0e-247
N 127,326
Large GWAS
multi-ancestry

triglyceride measurement, alcohol consumption quality

de Vries PS et al. Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR
p 1.0e-237
N 71,394
Large GWAS
multi-ancestry

triglycerides in very large HDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.08
p 9.0e-146
N 203,300
Large GWAS
European

serum creatinine amount

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.03
p 1.0e-36
N 420,576
Major Consortium StudyLarge GWAS
European

1-stearoyl-GPE (18:0) measurement

Allele T
OR 0.13
p 2.0e-36
N 14,296
Large GWAS
European

Research that mentions this SNP (1)

Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=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.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis

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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