rs2051526
This is a intron variant variant in the ETV6 gene.
▶Research that mentions this SNP (1)
▶Single nucleotide polymorphisms in transcription factor genes associated with susceptibility to oral cancerAssociationN=1,000Hetal Damani Shah et al.(2020)· Journal of Cellular Biochemistry
Case-control study of 500 oral cancer patients and 500 healthy tobacco users from India identifying 5 SNPs in transcription factor genes associated with increased oral cancer risk: rs2051526 (ETV6, OR=1.98), rs6021247 (NFATC2, OR=2.77), rs3757769 (SND1, OR=2.09), rs7085532 (TCF7L2, OR=12.16), and rs7778413 (SND1, OR=34.60). Coinheritance of rs6021247 GG and rs7778413 CC genotypes showed dramatic increased risk (OR=49.94).
About ETV6
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
View all ETV6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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