Heron, S. E. et al. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
Sontheimer, E.J. & Steitz, J.A. Three novel functional variants of human U5 small nuclear RNA.
Search for genetic markers and functional variants involved in the development of opiate and cocaine addiction and treatment.
Flachsbart, F. et al. Identification and characterization of two functional variants in the human longevity gene FOXO3.
Kozyrev, S.V. et al. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Cui, R. et al. Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.
We identified 28 novel variants including potential functional variants in the intron region and one rare missense variant (R150S).
Genome-wide association studies have identified 200 IBD-associated loci, but few have been conclusively resolved to specific functional variants.
Wang, J. C. et al. Functional variants in TAS2R38 and TAS2R16 influence alcohol consumption in high-risk families of African-American origin.
We did include the DAT1 VNTR35 because there are fewer functional variants and the major functional distinction is between the 9 and 10 base pair repeat.
Interference between the effects of multiple functional variants at a locus can even completely hide the nature of true causal variants for a non-trivial fraction of analyses60.
