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: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 2 2014 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
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: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
PIK3CA
0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06
CUI: C4728213
Disease: PIK3CA related overgrowth spectrum
PIK3CA related overgrowth spectrum 		0.700 0