Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913287
rs121913287
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.700 GeneticVariation UNIPROT

dbSNP: rs121913287
rs121913287
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913286
rs121913286
PIK3CA
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs121913286
rs121913286
PIK3CA
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 GeneticVariation UNIPROT

dbSNP: rs121913286
rs121913286
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT

dbSNP: rs121913286
rs121913286
PIK3CA
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121913286
rs121913286
PIK3CA
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913286
rs121913286
PIK3CA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121913286
rs121913286
PIK3CA
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913283
rs121913283
PIK3CA
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121913283
rs121913283
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.700 GeneticVariation UNIPROT

dbSNP: rs121913283
rs121913283
PIK3CA
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913283
rs121913283
PIK3CA
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT

dbSNP: rs121913283
rs121913283
PIK3CA
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C2752042
Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C0265552
Disease: Congenital macrodactylia
Congenital macrodactylia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913281
rs121913281
PIK3CA
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 CausalMutation CLINVAR