rs80358638, 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.
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.700 1.000 14 2003 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.700 1.000 6 2003 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.700 1.000 3 2003 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.700 0
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
24 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
Childhood Medulloblastoma
CUI: C0278510
Disease: Childhood Medulloblastoma
25 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003