rs17505102

This is a regulatory region variant variant in the TP63 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (1)

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Association of TLX1 gene polymorphisms with the risk of acute lymphoblastic leukemia and B lineage acute lymphoblastic leukemia in Han Chinese children
AssociationN=458Endian Mei et al.(2020)· Journal of Clinical Laboratory Analysis

This case-control study examined six TLX1 gene SNPs in 217 childhood acute lymphoblastic leukemia (ALL) cases and 241 controls from Han Chinese. rs17113735 showed increased ALL risk (OR 3.01, 95% CI 1.33-6.79, P=0.006) while rs946328 showed decreased risk (OR 0.64, 95% CI 0.42-0.98, P=0.039). For B-cell ALL specifically, rs17113735 increased risk (OR 2.94, 95% CI 1.29-6.72, P=0.008) and rs2075879 decreased risk (OR 0.66, 95% CI 0.44-0.99, P=0.044).

Traits studied:Acute lymphoblastic leukemiaB-cell acute lymphoblastic leukemiaT-cell acute lymphoblastic leukemia
PubMedDOIMetascience Observatory

About TP63

This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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