Source: BEFREE

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: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.923 13 2000 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.923 13 2000 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 1.000 6 2002 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 1.000 6 2002 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.040 1.000 4 2003 2015
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.040 0.750 4 2003 2015
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.040 1.000 4 2003 2015
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2007 2016
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.020 1.000 2 2012 2014
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.020 1.000 2 2012 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2007 2016
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2007 2016
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.020 0.500 2 2003 2015
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0278689
Disease: Recurrent ovarian cancer
Recurrent ovarian cancer 		0.010 1.000 1 2018 2018
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma 		0.010 1.000 1 2017 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		0.010 1.000 1 2017 2017
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.010 1.000 1 2006 2006
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		0.010 1.000 1 2007 2007
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2003 2003
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2006 2006
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.010 1.000 1 2011 2011
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.010 1.000 1 2006 2006
dbSNP: rs144848
rs144848
BRCA2
0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.010 1.000 1 2017 2017