rs144848, BRCA2

N. diseases: 29
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.
Recurrent ovarian cancer
CUI: C0278689
Disease: Recurrent ovarian cancer
1 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2018 2018
Small cell carcinoma of esophagus
CUI: C1112474
Disease: Small cell carcinoma of esophagus
5 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2015 2015
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
24 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2011 2011
Childhood Medulloblastoma
CUI: C0278510
Disease: Childhood Medulloblastoma
25 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2011 2011
Carcinoma of Male Breast
CUI: C0238033
Disease: Carcinoma of Male Breast
38 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2007 2007
Adult Non-Hodgkin Lymphoma
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
39 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2017 2017
Childhood Non-Hodgkin Lymphoma
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
39 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2017 2017
Malignant neoplasm of male breast
CUI: C0242787
Disease: Malignant neoplasm of male breast
43 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2007 2007
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
Azoospermia
CUI: C0004509
Disease: Azoospermia
70 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
Oligospermia
CUI: C0028960
Disease: Oligospermia
72 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
Lymphoma, Non-Hodgkin, Familial
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
79 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2017 2017
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
83 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 2014
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2011 2011
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
129 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 0.500 2 2003 2015
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
197 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 2017
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.040 1.000 4 2003 2015
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.040 0.750 4 2003 2015
Squamous cell carcinoma of esophagus
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
329 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2003 2003
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.040 1.000 4 2003 2015
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2007 2016
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2007 2016
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2007 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.060 1.000 6 2002 2017