PKLR, variants, traits, and what the research shows

Plain-English summary of the PKLR gene: 258 high-magnitude variants on file, 4 with published research summaries. Variants linked to rare_disease.

High-magnitude variants on file
258
With published research summary
4
Trait themes
1

Traits this gene affects

  • rare_disease

Top variants in PKLR

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
rs10521765.5rare_disease
rs1182040845.5rare_disease
rs1182040895.5rare_disease
rs11936897185.5rare_disease
rs11957602895.5rare_disease
rs13317426335.5rare_disease
rs13580475185.5rare_disease
rs1388717005.5rare_disease
rs1396976465.5rare_disease
rs14033235915.5rare_disease
rs1413417885.5rare_disease
rs1415605325.5rare_disease
rs14340080425.5rare_disease
rs14483819475.5rare_disease
rs1451326645.5rare_disease
rs1467087025.5rare_disease
rs1476595275.5rare_disease
rs1499462715.5rare_disease
rs15579599065.5rare_disease
rs15720571405.5rare_disease