Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		G 0.820 CausalMutation CLINVAR

dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121913272
rs121913272
PIK3CA
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		C 0.800 CausalMutation CLINVAR

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

dbSNP: rs121913273
rs121913273
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		G 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.800 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0027651
Disease: Neoplasms
Neoplasms 		G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121913279
rs121913279
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		T 0.800 CausalMutation CLINVAR

dbSNP: rs397514565
rs397514565
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587776932
rs587776932
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		A 0.800 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs587776932
rs587776932
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs587777790
rs587777790
PIK3CA
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777791
rs587777791
PIK3CA
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777792
rs587777792
PIK3CA
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777793
rs587777793
PIK3CA
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777794
rs587777794
PIK3CA
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		A 0.800 CausalMutation CLINVAR

dbSNP: rs863225460
rs863225460
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		A 0.800 CausalMutation CLINVAR