Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913273
rs121913273
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 GeneticVariation UNIPROT

dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		G 0.710 CausalMutation CLINVAR

dbSNP: rs121913273
rs121913273
PIK3CA
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		0.710 GeneticVariation UNIPROT

dbSNP: rs104886003
rs104886003
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		A 0.710 GeneticVariation CLINVAR

dbSNP: rs867262025
rs867262025
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.700 GeneticVariation UNIPROT

dbSNP: rs863225460
rs863225460
PIK3CA
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225460
rs863225460
PIK3CA
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs863225060
rs863225060
PIK3CA
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs749415085
rs749415085
PIK3CA
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs587777796
rs587777796
PIK3CA
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5 		G 0.700 CausalMutation CLINVAR

dbSNP: rs587776933
rs587776933
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587776802
rs587776802
PIK3CA
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs587776802
rs587776802
PIK3CA
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs397517202
rs397517202
PIK3CA
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		G 0.700 CausalMutation CLINVAR

dbSNP: rs397517201
rs397517201
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs397517201
rs397517201
PIK3CA
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs397517200
rs397517200
PIK3CA
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397514565
rs397514565
PIK3CA
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		A 0.700 CausalMutation CLINVAR

dbSNP: rs397514565
rs397514565
PIK3CA
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1560137609
rs1560137609
PIK3CA
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		GT 0.700 GeneticVariation CLINVAR

dbSNP: rs1560137609
rs1560137609
PIK3CA
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		GT 0.700 GeneticVariation CLINVAR

dbSNP: rs1560137208
rs1560137208
PIK3CA
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1553826166
rs1553826166
PIK3CA
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1242945375
rs1242945375
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.700 GeneticVariation UNIPROT

dbSNP: rs121913288
rs121913288
PIK3CA
CUI: C1865285
Disease: Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly cutis marmorata telangiectatica congenita 		0.700 GeneticVariation UNIPROT