rs80358785, BRCA2

N. diseases: 9
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 1.000 14 1999 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 1.000 13 2002 2017
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 1.000 1 2016 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0
GLIOMA SUSCEPTIBILITY 3
CUI: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
22 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
125 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0