rs80357474, BRCA1

N. diseases: 5
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-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.800 1.000 16 2003 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.710 1.000 1 2017 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.710 1.000 1 2017 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.700 0
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.700 0