BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: Triple Negative Breast Neoplasms ×
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: rs587780021
rs587780021 		0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs587781948
rs587781948 		0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016