rs3825061
This variant is located in the VPS11 gene.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol to total lipids in medium HDL percentage
concentration of large HDL particles measurement
free cholesterol in HDL measurement
free cholesterol in large HDL measurement
HDL cholesterol change measurement
cholesteryl esters in HDL measurement
total lipids in HDL measurement
phospholipids in HDL measurement
high density lipoprotein cholesterol measurement
body mass index
▶ClinVar annotation
not provided; Dystonia 32; Hypomyelinating leukodystrophy 12; Hepatocellular carcinoma
View on ClinVar →About VPS11
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
View all VPS11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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