SLC17A1, variants, traits, and what the research shows

SLC17A1 - what this gene does

SLC17A1 (also catalogued within the SLC17 solute-carrier transporter gene family) has 163 variants on file whose trait associations span three broad research themes: rare diseases, neurological conditions, and kidney-related traits. No detailed research summaries are currently available for individual variants, so the characterisation below draws entirely from variant metadata.

Key takeaways

• The two highest-signal variants in this gene are both linked to rare disease categories.
• Separate variants connect this gene to neurological and kidney-related research.
• Most of the 163 variants on file carry no trait annotation, so the full picture is still emerging.
• All associations are population-level findings, not individual health predictions.
• Evidence quality varies widely; no study-level data is available for any variant in this gene yet.

Notable variants

The strongest signals come from rs143424660 and rs150942022, each carrying a magnitude (an internal signal-strength score reflecting effect size and evidence weight) of 5.50 and both linked to rare disease trait categories. At magnitude 4.50, rs13201341 is associated with neurological traits, rs9461218 with kidney-related traits, and rs1324082 sits at the same magnitude without a trait label on file. A large cluster of variants at magnitude 3.00 - including rs142058498, rs144074233, rs146175657, and rs149342678 among others - currently lacks trait annotations.

Trait associations

Three trait themes emerge from the annotated variants. Rare disease associations are supported by the two highest-magnitude entries, rs143424660 and rs150942022. A neurological signal is present through rs13201341, and a kidney-related signal through rs9461218. The remaining variants either carry no trait annotation or are part of the magnitude-3.00 cluster where specific traits have not yet been recorded, meaning the full breadth of this gene's associations is likely wider than what is currently documented.

Evidence quality

No prior research summaries have been compiled for any individual variant in this gene; all trait labels are drawn from variant metadata rather than curated study data. The two magnitude-5.50 variants (rs143424660 and rs150942022) carry the strongest apparent signals and may derive from GWAS (genome-wide association studies - scans of many people's genomes for variants statistically associated with a trait) or rare-variant studies. The large number of unannotated magnitude-3.00 variants suggests preliminary findings, possibly from single-cohort studies. Sample sizes, odds ratios, and replication status are not available from the current data. This entry will be updated as SNP-level research summaries are added.

What this is NOT

These variants are population-level statistical signals, not deterministic predictors for any individual. This entry does not prescribe, diagnose, or advise any course of action.