rs45580035, BRCA2

N. diseases: 8
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.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.800 1.000 25 1997 2014
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 1.000 12 2008 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 1.000 6 2008 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 1.000 6 2009 2015
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 0
Kidney Neoplasm
CUI: C0022665
Disease: Kidney Neoplasm
11 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 0
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 0
melanoma
CUI: C0025202
Disease: melanoma
515 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 0