The majority of mutations are frameshifts, but there are a number of missense mutations of which the pathogenicity is usually unclear (variants of unclassified significance-VUS).
Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear whether variants with moderate effect size and frequencies below what are reliably detected with genome-wide association studies contribute significantly to disease risk.
Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear whether variants with moderate effect size and frequencies below what are reliably detected with genome-wide association studies contribute significantly to disease risk.
For the remaining protein-coding genes with intronic SNP variants: ROBO1, LPHN2 and PTPRD, it remains unclear how their variant may alter their gene product.
Under our scheme, the three classes of bdelloid rotifer H2Abd, which all have long but apparently unrelated tails, might be better designated with a species or group descriptor and paralog numbers (Adineta vaga H2A.1 to H2A.3 or bdelloid H2A.1 to H2A.3) since it is presently unclear whether these variants form a clade or are polyphyletic.
Although the underlying mechanism through which histone variants influence gene expression is unclear, certain histone variants have been shown to be linked with specialized genomic roles.
First, there has been little effort to interpret overlapping events, the biological significance of which is unclear when a variant's frequency in the population is low or undetermined.
It remains unclear whether genetic variants only affect immune cells or whether they also impact on CNS cell function, thus driving MS risk by dysregulating CNS-intrinsic pathways.
However, it is unclear whether these variants are also associated with the development of CHD as measured by subclinical atherosclerosis phenotypes, ankle brachial index (ABI), carotid artery intima-media thickness (cIMT) and carotid plaque.
Schizophrenia has a strong genetic component but it is unclear how genetic variants contribute to the disease phenotype.
