rs799917, BRCA1

N. diseases: 18
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.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.060 0.667 6 2009 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.060 0.667 6 2009 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.030 1.000 3 2009 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.030 1.000 3 2009 2018
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
197 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.020 1.000 2 2013 2018
Bloom Syndrome
CUI: C0005859
Disease: Bloom Syndrome
132 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009
Breast Cancer, Familial
CUI: C0346153
Disease: Breast Cancer, Familial
91 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2014 2014
cervical cancer
CUI: C4048328
Disease: cervical cancer
268 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
283 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
615 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2015 2015
Malignant transformation
CUI: C1608408
Disease: Malignant transformation
20 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2013 2013
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
245 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2016 2016
Squamous cell carcinoma of esophagus
329 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2013 2013
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2015 2015
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
99 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2017 2017
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
96 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2017 2017
Werner Syndrome
CUI: C0043119
Disease: Werner Syndrome
71 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009