rs137852986, BRIP1

N. diseases: 13
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.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.710 1 2016 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
141 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 18 2005 2018
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 12 2005 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 10 2005 2015
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 1.000 3 2005 2016
BREAST CANCER, EARLY-ONSET
CUI: C4016951
Disease: BREAST CANCER, EARLY-ONSET
4 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 0
Esophageal atresia with or without tracheoesophageal fistula
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
12 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 0
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 0
Noninfiltrating Intraductal Carcinoma
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.010 1 2016 2016
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.010 1.000 1 2009 2009
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.010 1.000 1 2009 2009
Severe Aplastic Anemia
CUI: C1883018
Disease: Severe Aplastic Anemia
4 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.010 1.000 1 2016 2016