Source: ALL

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: 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: 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: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		0.010 1.000 1 2016 2016
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 1.000 1 2015 2015
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2018 2018
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 1.000 1 2016 2016
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: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2015 2015
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: C1332986
Disease: Childhood Osteosarcoma
Childhood 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: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
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: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2018 2018
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: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		0.010 1.000 1 2015 2015
dbSNP: rs752742313
rs752742313
PIK3CB
0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
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