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.
Adenocarcinoma of large intestine
CUI: C1319315
Disease: Adenocarcinoma of large intestine
432 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
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
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
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.740 0.875 8 2013 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.750 0.857 7 2014 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
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
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
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, 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 Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 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 Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.700 1.000 1 2016 2016
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
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
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
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
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.740 0.800 5 2013 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.750 0.800 5 2014 2018
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