Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587776802
rs587776802
PIK3CA
1.000 0.080 3 179234358 frameshift variant -/A delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 0
dbSNP: rs587776802
rs587776802
PIK3CA
1.000 0.080 3 179234358 frameshift variant -/A delins
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 0
dbSNP: rs1560137609
rs1560137609
PIK3CA
0.925 0.080 3 179199743 frameshift variant -/T delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1560137609
rs1560137609
PIK3CA
0.925 0.080 3 179199743 frameshift variant -/T delins
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		0.700 0
dbSNP: rs121913282
rs121913282
PIK3CA
0.882 0.040 3 179221072 missense variant A/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 2 2005 2014
dbSNP: rs1057519928
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
0.776 0.160 3 179203763 missense variant A/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2006 2018
dbSNP: rs1057519927
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 2006 2018