Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913272
rs121913272
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease:
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		0.800 GeneticVariation UNIPROT Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease:
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		0.800 GeneticVariation UNIPROT Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 22658544 2012
dbSNP: rs121913272
rs121913272
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease:
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease:
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease:
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104886003
rs104886003
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease:
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121913273
rs121913273
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease:
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121913281
rs121913281
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2752042
Disease:
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		T 0.700 CausalMutation CLINVAR