rs326214
This is a synonymous variant in the MADD gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (15)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (15)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
high density lipoprotein cholesterol measurement
triglycerides in medium HDL measurement
blood VLDL cholesterol amount
triglyceride measurement, blood VLDL cholesterol amount
phospholipids in VLDL measurement
total lipids in medium VLDL
triglyceride measurement
triglycerides in medium VLDL measurement
free cholesterol in medium VLDL measurement
cholesteryl esters in large VLDL measurement
▶ClinVar annotation
Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
View on ClinVar →About MADD
Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
View all MADD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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