Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		0.800 GeneticVariation UNIPROT CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. 29446767

2018
dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		C 0.800 CausalMutation CLINVAR