rs144848, BRCA2

N. diseases: 29
Source: BEFREE ×
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.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2145 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.100 0.923 13 2000 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
2154 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.100 0.923 13 2000 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1441 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.060 1.000 6 2002 2017
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
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
321 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.040 0.750 4 2003 2015
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
246 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.040 1.000 4 2003 2015
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
229 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.040 1.000 4 2003 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
995 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2007 2016
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
109 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 0.500 2 2003 2015
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
60 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 2014
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
193 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 lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1000 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 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
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
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
Azoospermia
CUI: C0004509
Disease: Azoospermia
66 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
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
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
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
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
44 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
46 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2017 2017
Male infertility
CUI: C0021364
Disease: Male infertility
137 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
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
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
34 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2011 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
1571 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2010 2010