SLC8A1, variants, traits, and what the research shows

SLC8A1 - what this gene does

Variants in SLC8A1 have been catalogued in genome-wide association studies (GWAS - studies that scan large numbers of people's genomes to find variants statistically linked to a trait) and show associations spanning cardiovascular, immune, metabolic, and pharmacogenomic trait categories.

Key takeaways

• Five independent variants in this gene carry cardiovascular associations, making it one of the more cardiovascular-focused genes in the dataset
• Two variants show immune-related associations at the highest magnitude level
• One variant is linked to pharmacogenomics, the study of how genetics may relate to drug response
• A metabolic trait association appears among the top-ranked variants
• Over 100 variants are on file for this gene, with 18 carrying published research summaries

Notable variants

The highest-magnitude variants all score at 4.50. The cardiovascular theme is carried by rs12997023, rs17026148, rs17026156, rs35450971, and rs4952632, five independent signals converging on the same trait category. Immune associations appear at rs11124749 and rs190197089, also at magnitude 4.50. A pharmacogenomics link is noted at rs114340955.

Trait associations

Cardiovascular traits are the most heavily represented category, with five separate variants carrying this association at magnitude 4.50: rs12997023, rs17026148, rs17026156, rs35450971, and rs4952632. The convergence of multiple independent cardiovascular signals in one gene strengthens the overall cardiovascular theme. Immune traits appear at rs11124749 and rs190197089, also at magnitude 4.50. A pharmacogenomics association is recorded at rs114340955 and a metabolic association at rs17025867. A further variant, rs6759076, ranks at magnitude 4.50 without a specified trait in the current dataset. Lower-magnitude variants are on file but lack trait annotations in this dataset.

Evidence quality

This gene has 106 variants on file, with 18 carrying prior research summaries. Ten variants rank at the highest magnitude level of 4.50, spanning four trait domains. The cardiovascular signal carries some additional weight from the presence of five independent variants at this magnitude level within the same gene, which represents cross-variant consistency rather than a single isolated finding. However, detailed effect sizes, odds ratios, and sample sizes are not available in the current dataset, making it difficult to assess the strength of individual associations. The broader set of lower-magnitude variants lacks trait annotations here, limiting analysis of the full variant landscape.

What this is NOT

These variants are population-level statistical signals from GWAS research, not deterministic predictors for any individual. This page does not prescribe, diagnose, or advise any course of action based on genetic information.