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: 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: 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: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2008 2008
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: 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: 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: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		0.010 1.000 1 2009 2009
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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		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: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 1.000 1 2010 2010
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2011 2017
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: 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: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 1.000 1 2011 2011
dbSNP: rs752021744
rs752021744
PIK3CB
0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2011 2011