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: C0027651
Disease: Neoplasms
Neoplasms 		0.070 1.000 7 2011 2015
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 0.833 6 2009 2019
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2011 2017
dbSNP: rs361072
rs361072
PIK3CB
0.882 0.120 3 138759702 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2009 2010
dbSNP: rs361072
rs361072
PIK3CB
0.882 0.120 3 138759702 intron variant G/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		0.020 1.000 2 2008 2010
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2010 2015
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.020 1.000 2 2010 2016
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 1.000 2 2011 2012
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2010 2015
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: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 1.000 2 2010 2016
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.020 1.000 2 2016 2016
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2011 2017
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 1.000 2 2008 2019
dbSNP: rs1171134914
rs1171134914
PIK3CB
3 138655454 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs1174984399
rs1174984399
PIK3CB
1.000 0.120 3 138714505 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 1.000 1 2017 2017
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
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: rs1304149814
rs1304149814
PIK3CB
3 138699042 missense variant A/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
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: rs361072
rs361072
PIK3CB
0.882 0.120 3 138759702 intron variant G/A;C snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 < 0.001 1 2009 2009
dbSNP: rs361072
rs361072
PIK3CB
0.882 0.120 3 138759702 intron variant G/A;C snv
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 < 0.001 1 2009 2009
dbSNP: rs371428527
rs371428527
PIK3CB
0.925 3 138737869 missense variant T/C;G snv 1.2E-05 1.4E-05
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs371428527
rs371428527
PIK3CB
0.925 3 138737869 missense variant T/C;G snv 1.2E-05 1.4E-05
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2019 2019