CFDP1, variants, traits, and what the research shows

CFDP1 is a human gene with variants associated in population studies with cardiovascular conditions, respiratory traits, and rare diseases.

High-magnitude variants on file
101
With published research summary
18
Trait themes
4

CFDP1 -- what this gene does

Variants catalogued near CFDP1 -- a locus on the human genome linked in population studies to cardiovascular, respiratory, and rare-disease trait categories -- point to a gene whose research profile is still developing. Because detailed summaries for the top-ranked variants are not yet available in this dataset, this entry focuses on the pattern of trait associations visible across the 101 variants on file.

Key takeaways

  • Five variants reach the highest magnitude tier (4.50), spanning cardiovascular, respiratory, and rare-disease categories.
  • The cardiovascular signal is the most represented theme, with three separate high-magnitude variants linked to this category.
  • A second tier of 15 or more variants at magnitude 3.00 broadens the trait landscape but carries less individual evidence weight.
  • Effect sizes and sample sizes for individual variants are not yet detailed in this entry; each variant's dedicated page will carry that data.
  • These are population-level statistical associations, not personal predictions.

Notable variants

The five variants with the highest magnitude score (4.50) define the current signal. rs111560531 is linked to a rare-disease category, and rs11864587 is linked to a respiratory trait. Cardiovascular associations appear across three separate top-tier variants: rs3863446, rs62062572, and rs6564260. The recurrence of cardiovascular-linked variants at the same magnitude tier across three independent rsids is notable, though individual effect sizes are not yet reported here. A further variant, rs2507589670, also carries a rare-disease annotation at the lower magnitude-3.00 tier.

Trait associations

The three trait themes visible across the variant set are cardiovascular conditions, respiratory traits, and rare diseases. Cardiovascular associations appear in three of the five highest-magnitude variants -- rs3863446, rs62062572, and rs6564260 -- making this the most represented category in the current dataset. Rare-disease associations span both the top tier (rs111560531) and the lower-magnitude tier (rs2507589670), suggesting this category is not confined to a single variant class. Respiratory traits appear in the top-tier variant rs11864587. The remaining magnitude-3.00 variants carry no trait annotation in the current dataset.

Evidence quality

The dataset includes 101 variants in or near this gene, of which 18 carry prior research summaries. Of those 18, two -- rs111560531 and rs11864587 -- have published pages, though detailed summaries for those pages are not yet available in this entry. Without reported effect sizes, odds ratios, or study sample sizes, it is not possible to characterize whether these represent large-effect rare variants or small-effect hits from a GWAS (genome-wide association study -- a scan across many people's genomes for variants statistically linked to a trait). The most important caveat is that the evidence base as represented here is preliminary, and each association should be treated as a direction for further reading rather than a settled conclusion.

What this is NOT

These variants represent population-level statistical signals identified in genomic studies, not deterministic predictions for any individual. This entry does not prescribe, diagnose, or advise any course of action.

Traits this gene affects

  • rare_disease
  • respiratory
  • cardiovascular

Top variants in CFDP1

Highest-impact rsids on file, sorted by magnitude. Linked entries have a full research summary; unlinked entries are in the catalog but not yet written up.

rsidMagnitudePrimary trait
rs1115605314.5rare_disease
rs118645874.5respiratory
rs38634464.5cardiovascular
rs620625724.5cardiovascular
rs65642604.5cardiovascular
rs11629803943.0
rs13146832183.0
rs1422005203.0
rs1430828313.0
rs1455935443.0
rs1469753173.0
rs2012096313.0
rs2020028203.0
rs2022020393.0
rs25075896703.0rare_disease
rs5325222143.0
rs5693922993.0
rs7526759353.0
rs7627368893.0
rs7633574553.0