rs699

rs699 is a single nucleotide polymorphism (SNP) in the human genome, cataloged in the dbSNP database as rs699. It denotes a bi-allelic variant, with two allele options on a given DNA strand. The exact genomic position and the surrounding gene context for rs699 can vary depending on the genome assembly, and annotations may place it in an intron, an exon, or an intergenic region.

Population frequency estimates show substantial variation in minor allele frequency across different populations and datasets. As with many SNPs, the frequency of the alternate allele can differ markedly between ethnic groups, which can influence association results in population-specific studies.

Associations: rs699 has been examined in various genetic association studies for potential links to diverse traits, including metabolic and cardiovascular phenotypes in some cohorts. However, findings are not consistently replicated across studies or populations, and rs699 is not widely recognized as a robust disease-causing variant.

Functional considerations: The biological impact of rs699, if any, remains uncertain. Depending on its location, it could affect regulatory elements, splicing, or transcription factor binding, but many SNPs in noncoding regions have regulatory potential that requires experimental validation to confirm any functional effect.

Usage: rs699 is used as a genetic marker in genotyping assays and imputation reference panels and may appear in GWAS datasets and meta-analyses as part of broader association signals.

See also: dbSNP, GWAS Catalog.