rs3130453
This is a stop gained variant in the TCF19 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 TCF19
This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
View all TCF19 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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