rs80358920, BRCA2

N. diseases: 14
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 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 1.000 9 1999 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 1.000 5 2008 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.732 0.400 13 32346841 stop gained C/G;T snv 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 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
37 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
GLIOMA SUSCEPTIBILITY 3
CUI: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
22 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
125 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
21 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 0
Chronic graft-versus-host disease
CUI: C0867389
Disease: Chronic graft-versus-host disease
17 0.732 0.400 13 32346841 stop gained C/G;T snv 0.010 1.000 1 2018 2018
Squamous cell carcinoma of esophagus
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
329 0.732 0.400 13 32346841 stop gained C/G;T snv 0.010 1.000 1 2018 2018