BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: bilateral breast cancer ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064794662
rs1064794662 		0.925 0.080 17 43049129 frameshift variant G/- delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs80357287
rs80357287 		0.882 0.200 17 43124096 start lost T/C snv
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs879255477
rs879255477 		1.000 0.080 17 43106526 start lost T/C snv
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017