rs80357268, BRCA1

N. diseases: 3
Source: CLINVAR ×
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
2106 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.700 1.000 18 1998 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2273 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.700 1.000 7 2004 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.700 1.000 6 2004 2013