Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913272
rs121913272
0.800 GeneticVariation UNIPROT Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544

2012

dbSNP: rs121913272
rs121913272
C 0.800 CausalMutation CLINVAR