rs11571833, BRCA2

N. diseases: 43
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
CUI: C3536893
Disease: Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
1 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2014 2014
Pancreatic carcinoma, familial
CUI: C2931038
Disease: Pancreatic carcinoma, familial
9 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2005 2005
Malignant Squamous Cell Neoplasm
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
12 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
Pancreatic Ductal Adenocarcinoma
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
22 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019
Endometrioid carcinoma ovary
CUI: C0346163
Disease: Endometrioid carcinoma ovary
35 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
Ovarian Serous Adenocarcinoma
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
65 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
80 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019
Breast Cancer, Familial
CUI: C0346153
Disease: Breast Cancer, Familial
91 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2015 2015
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
Adult Glioblastoma
CUI: C0278878
Disease: Adult Glioblastoma
98 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1 2016 2016
Childhood Glioblastoma
CUI: C0280474
Disease: Childhood Glioblastoma
98 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1 2016 2016
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
125 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.710 1.000 2 2017 2018
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1 2016 2016
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2014 2018
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
283 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2015 2019
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.020 1.000 2 2016 2018
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.020 1.000 2 2016 2018
Squamous cell carcinoma of esophagus
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
329 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2011 2011
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
368 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
370 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
373 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
374 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
Malignant neoplasm of large intestine
CUI: C0346629
Disease: Malignant neoplasm of large intestine
375 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016