BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
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: rs28997576
rs28997576
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2012
dbSNP: rs113211432
rs113211432
0.882 0.080 2 214767532 frameshift variant -/TG delins
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2070094
rs2070094
0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs386654966
rs386654966
0.882 0.080 2 214767531 missense variant CA/AG;TG mnv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006