Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0009402
Disease:
Colorectal Carcinoma
G 0.820 CausalMutation CLINVAR
dbSNP: rs104886003
rs104886003
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0009402
Disease:
Colorectal Carcinoma
A 0.800 CausalMutation CLINVAR
dbSNP: rs104886003
rs104886003
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0022603
Disease:
Seborrheic keratosis
A 0.800 CausalMutation CLINVAR
dbSNP: rs104886003
rs104886003
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita
A 0.800 CausalMutation CLINVAR
dbSNP: rs121913272
rs121913272
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2751313
Disease:
CLAPO Syndrome
C 0.800 CausalMutation CLINVAR
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: rs121913273
rs121913273
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2751313
Disease:
CLAPO Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs121913273
rs121913273
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2751313
Disease:
CLAPO Syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs121913274
rs121913274
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2239176
Disease:
Liver carcinoma
C 0.800 CausalMutation CLINVAR
dbSNP: rs121913279
rs121913279
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C2751313
Disease:
CLAPO Syndrome
T 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: C0022603
Disease:
Seborrheic keratosis
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: rs121913281
rs121913281
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita
0.800 GeneticVariation UNIPROT
dbSNP: rs121913281
rs121913281
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita
T 0.800 CausalMutation CLINVAR
dbSNP: rs397514565
rs397514565
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita
A 0.800 CausalMutation CLINVAR
dbSNP: rs587776932
rs587776932
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita
A 0.800 GeneticVariation CLINVAR
dbSNP: rs587776932
rs587776932
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita
0.800 GeneticVariation UNIPROT
dbSNP: rs587777790
rs587777790
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C3554518
Disease:
COWDEN SYNDROME 5
A 0.800 CausalMutation CLINVAR
dbSNP: rs587777791
rs587777791
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C3554518
Disease:
COWDEN SYNDROME 5
A 0.800 CausalMutation CLINVAR
dbSNP: rs587777792
rs587777792
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C3554518
Disease:
COWDEN SYNDROME 5
A 0.800 CausalMutation CLINVAR
dbSNP: rs587777793
rs587777793
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C3554518
Disease:
COWDEN SYNDROME 5
A 0.800 CausalMutation CLINVAR
dbSNP: rs587777794
rs587777794
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C3554518
Disease:
COWDEN SYNDROME 5
A 0.800 CausalMutation CLINVAR
dbSNP: rs863225460
rs863225460
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita
A 0.800 CausalMutation CLINVAR
dbSNP: rs121913273
rs121913273
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.730 GeneticVariation UNIPROT