01
At a glance
Association overview
02
Provenance
Evidence and sources
03
STAP1
The gene
04
Familial Hypercholesterolemia
The disorder
05
ClinVar and variant evidence
Genetic basis
07
Provenance
The association between STAP1 (Signal Transducing Adaptor Family Member 1) and Familial Hypercholesterolemia is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.