SUMF1, variants, traits, and what the research shows

SUMF1 - what this gene does

All catalogued variants link to rare disease trait themes. No research summaries are yet available for individual variants, so functional characterization is limited to this trait-level signal.

Key takeaways

• All 20 top-ranked variants share a magnitude score of 5.50 (a measure of estimated variant impact used in this database), pointing to a consistent rare-disease signal across different changes in this gene.
• A total of 424 variants are on file, a large catalog for a gene associated with rare disease.
• No individual variant research summaries are currently available, limiting detailed variant-level interpretation.
• High magnitude scores reflect significance by the ranking criteria used here, but are not individual health predictions.
• More context will emerge as individual SNP (single nucleotide polymorphism - a single-letter change in the DNA sequence) summaries are added to the catalog.

Notable variants

Among the 20 highest-magnitude variants on file, all scoring 5.50 and all linked to rare disease, the following are representative of the breadth of the signal: rs1064793391, rs1274564118, rs1334585480, rs137852845, rs137852852, rs137917233, rs141957829, and rs1701517964. The uniform magnitude score across all listed variants suggests a pattern of consistent clinical or population-level importance rather than a single dominant variant driving the signal.

Trait associations

The only trait theme represented in the on-file variant data is rare disease. All 20 listed variants, including rs1350782911, rs1420137773, rs143616931, and rs1460272243, share this classification alongside those highlighted above. The uniform rare-disease label and consistently high magnitude scores across all listed variants point to a coherent signal rather than scattered, unrelated associations.

Evidence quality

All 20 listed variants carry a magnitude score of 5.50, indicating high impact by the ranking criteria applied in this database. However, no individual research summaries are yet on file for this gene, meaning the specific evidence type - whether ClinVar (a public database of clinically reported genetic variants) pathogenicity assertions, GWAS (genome-wide association study - a scan of many genomes for variants statistically linked to a trait) results, or single-cohort findings - cannot be confirmed from the available data alone. The full catalog of 424 variants is notably large for a rare-disease-focused gene, which may reflect multiple distinct pathogenic changes documented across clinical reports. Until individual SNP summaries are available, replication status and study-level details remain uncharacterized.

What this is NOT

These variants represent population-level or clinically documented signals, not deterministic outcomes for any individual who carries a given allele. This page does not prescribe, diagnose, recommend testing, or advise any course of action.