rs28433072
This is a intron variant variant in the TMEM165 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
aspartate aminotransferase measurement, low density lipoprotein triglyceride measurement, serum alanine aminotransferase amount, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement
body fat percentage
About TMEM165
This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
View all TMEM165 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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