rs11571833, BRCA2

N. diseases: 43
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.
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.750 0.857 7 2014 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.750 0.800 5 2014 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.050 1.000 5 2015 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.050 1.000 5 2015 2018
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.050 0.800 5 2014 2018
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2016 2018
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2014 2018
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.020 1.000 2 2016 2018
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.020 1.000 2 2016 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.020 1.000 2 2015 2018
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
125 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.710 1.000 2 2017 2018
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
Malignant Squamous Cell Neoplasm
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
12 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
Squamous cell carcinoma of skin
CUI: C0553723
Disease: Squamous cell carcinoma of skin
92 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2018 2018
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
283 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2015 2019
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
80 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019
Pancreatic Ductal Adenocarcinoma
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
22 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019