Source: BEFREE

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: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2011 2011
dbSNP: rs1235228469
rs1235228469
PIK3CB
0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1235228469
rs1235228469
PIK3CB
0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2012 2012
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2012 2012
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 < 0.001 1 2012 2012
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2012 2012
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 < 0.001 1 2012 2012
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 2012 2012
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2012 2012
dbSNP: rs1331108652
rs1331108652
PIK3CB
3 138694820 stop gained G/A snv 4.0E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 1.000 1 2013 2013
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C2931367
Disease: Thyroid cancer, follicular
Thyroid cancer, follicular 		0.010 1.000 1 2013 2013
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C1301194
Disease: Salivary duct carcinoma
Salivary duct carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2014 2015
dbSNP: rs1171134914
rs1171134914
PIK3CB
3 138655454 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		0.010 1.000 1 2014 2014
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2014 2014
dbSNP: rs754551112
rs754551112
PIK3CB
1.000 0.080 3 138737810 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2014 2014
dbSNP: rs1233960622
rs1233960622
PIK3CB
1.000 0.080 3 138699044 missense variant C/T snv 1.4E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015