Several studies have identified functional variants involving enhancer elements and altered transcription factor binding.
Furthermore, several published examples show functional variants in MREs that modulate risk for a variety of disease states, such as breast cancer, Tourette's syndrome, and hypertension among others [ 4].
There are several functional tests available to assess variant protein activity, although they each have their limitations.
The ATM protein has several functional domains and the identified missense variants are located throughout the ORF.
We propose that the six clades of GFP-like proteins may represent several functional classes of proteins with multiple variants in each class.
We have compared the results from multifactorial likelihood analysis with those from several functional analyses for the four BRCA1 sequence variants A1708E, G1738R, R1699Q, and A1708V.
Several functional assays demonstrate that the two polymorphic variants of p53 have different biochemical and biological characteristics (Storey et al, 1998; Thomas et al, 1999; Marin et al, 2000).
While GWA studies have identified several novel determinants of QT interval, very few functional variants have been identified.
Recent studies in SLE demonstrate several loci for which targeted resequencing successfully enriched functional variants and haplotypes, including TNFAIP3 (16), UBE2L3 (3), IKBKE (17), and IFIH1 (17).
Another prediction made by the synthetic association hypothesis is that the most significantly associated common variant identified by GWAS might be located several megabases away from the underlying low-frequency functional variants.
