CEP250, variants, traits, and what the research shows

Plain-English summary of the CEP250 gene: 780 high-magnitude variants on file, 1 with published research summaries. Variants linked to rare_disease, hearing.

High-magnitude variants on file
780
With published research summary
1
Trait themes
2

Traits this gene affects

  • rare_disease
  • hearing

Top variants in CEP250

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
rs10365301325.5rare_disease
rs10519441545.5hearing
rs1141978985.5rare_disease
rs11736315865.5rare_disease
rs11825928185.5rare_disease
rs12660640555.5rare_disease
rs12694191375.5rare_disease
rs12987631395.5rare_disease
rs13034168555.5rare_disease
rs13141143335.5rare_disease
rs13412987735.5hearing
rs13452171655.5hearing
rs13690764115.5hearing
rs13889024555.5vision
rs13983677645.5rare_disease
rs1435616205.5rare_disease
rs1440243615.5rare_disease
rs1453529345.5rare_disease
rs1458783855.5hearing
rs1999004365.5rare_disease