rs55770810, BRCA1

N. diseases: 10
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 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 16 2001 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 12 2001 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.810 1.000 6 2004 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2012 2012
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 1 2012 2012
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 1 2015 2015
Malignant phyllodes tumor of breast
CUI: C0346154
Disease: Malignant phyllodes tumor of breast
1 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2007 2007
Phyllodes Tumor
CUI: C0010701
Disease: Phyllodes Tumor
1 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.010 1.000 1 2007 2007
FANCONI ANEMIA, COMPLEMENTATION GROUP S
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
28 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.800 0
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.800 0