rs80358981, BRCA2

N. diseases: 7
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.
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 1.000 16 1997 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 1.000 11 1997 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 1.000 4 1997 2014
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0