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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders

Fig. 1

Candidate SNP marker rs34500389 predicted by this work to be associated with mental and cognitive disorders. Legend: a Unannotated SNPs (analyzed in this study) in the 100 bp region [where all known TBP-binding sites (boxed) are located; double-headed arrow, ↔] of the human HBB gene promoter were examined using the UCSC Genome Browser [38]. Dotted-and-dashed arrow: SNP rs34500389 under study within the reference human genome sequence and its description within database dbSNP [39], which is publicly available, as indicated by the “laptop” icon. b The description of rs34500389 within database dbSNP [39]. c The results from our Web service SNP_TATA_Z-tester [31] for SNP rs34500389 being analyzed. Dash-and-dot arrows: significance estimates for the alteration of the HBB level in patients with the minor allele (text box “2nd promoter”) relative to the norm (text box “1st promoter”) expressed as a Z-score using the R package [43]. Circles indicate the ancestral and minor alleles of the SNP marker in question within the text boxes “1st promoter” and “2nd promoter,” respectively

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