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14 Thus, rs1926736 may have substantial functional consequences at the molecular level, but this depends on its relationship with other single nucleotide polymorphisms in the same exon.
5 Because they often have relatively substantial functional consequences and a potentially high incidence in a population, single nucleotide polymorphisms can be very informative and are extensively used in studies of their association with risk for many diseases, including cancer.
It is logical that if SNP of gene encoding specific PRR is associated with risk or progression features of certain malignancies, polymorphisms in genes encoding specific signaling molecules constituting pathways of these receptors should correlate with similar neoplasms, if they have substantial functional consequences on the molecular level.
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Younger SNPs have lower DAF, which may have substantial functional and structural consequences.
Bioinformatic prediction tools provide substantial evidence to functional consequences and the fact that we have not found a second heterozygous or homozygous c.899G > C carrier in a set of 1046 healthy subjects and the high conservation at this locus furthermore support a potential association with the phenotype.
In contrast, metazoan hox genes are also tandemly arrayed, but contain substantial variation that demonstrates the functional consequences of the array organisation [ 8].
Although nuclear CpG methylation receives substantial attention, methylation of mtDNA and its functional consequences are less well known.
Given the high frequency of modifiable amino acids in disordered proteins, low "penetrance" can lead to substantial chemical heterogeneity, which may, in turn, have functional consequences.
Accordingly, we further propose that an important biological consequence of MAE is generation of substantial functional mosaicism involving otherwise similar cells within mammalian tissues.
This distinction enables substantial improvements in gene maps, and identification of plausible biological variation with possible functional consequences.
Thus, substantial allelic differences in the length of mucins may occur in both exonic and intronic regions, and these may have functional consequences that lead to differences in disease susceptibility.
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