rs1049633
This is a 3 prime utr variant variant in the DDR1 gene.
▶Research that mentions this SNP (1)
▶Identification of miRSNPs associated with the risk of multiple myelomaAssociationN=4,726Angelica Macauda et al.(2017)· International Journal of Cancer
A genome-wide association study investigating miRNA-binding site SNPs (miRSNPs) in multiple myeloma susceptibility. Among 2,894 MM cases and 1,832 controls from the IMMEnSE consortium, two SNPs showed initial association (rs286595 in MRPL22, rs1419881 in TCF19). Meta-analysis with published GWAS data revealed significant associations for rs13409 (POU5F1, OR=0.92), rs1049623 (DDR1, OR=0.92), rs1049633 (DDR1, OR=0.87), and rs1419881 (TCF19, OR=0.91), all showing decreased MM risk.
About DDR1
Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
View all DDR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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