Sentence examples for be the functional variant from inspiring English sources

In-silico prediction by PolyPhen and SIFT indicated that the non-conservative R82C substitution is damaging to protein function suggesting that R82C could be the functional variant in this locus.

However, due to its location, the rs3850641 polymorphism in intron 1 is unlikely to be the functional variant.

This polymorphism may therefore be the functional variant responsible for the association with smoking quantity.

Thus K173Q itself is unlikely to be the functional variant underlying the association signal.

The actual functional variant in the ADAMTS9 region is not known, and the rs4607103 SNP may not be the functional variant in this region.

This suggested that the Xmn1 site is not the functional variant but that rs10128556 or a variant in LD with it might be the functional variant [ 65].

It is therefore likely that a different SNP tagged by these variants is the functional variant, and this is further supported by the haplotypic association we identified for SNPs surrounding rs3822086, which persists even when this SNP is excluded.

It is possible that in fact rs2234693 is the functional variant and that our finding was due to the strong LD between the markers in addition to random variation in the data.

We later found significantly low levels of LPP mRNA in CeD biopsies compared with controls, thus our results suggest that rs4686484 is the functional variant in this locus, while LPP expression is decreased in CeD.

In a recent study in vitro, a construct including only the A allele of the rs2854744 SNP variant was found to increase promoter activity, suggesting that rs2854744 is the functional variant that affects IGFBP-3 transcription, and that the associations we have observed with the other polymorphisms of IGFBP3 are exclusively due to strong LD (Deal et al, 2001).

The aforementioned Geuvadis study [ 11] also showed that the likelihood that a GWAS SNP is an eQTL declines with its rank in a linkage disequilibrium block: the peak association need not be the causal one, but eQTL results are consistent with near-peak ones being the functional variant in many cases.