BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: Malignant neoplasm of breast ×
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: rs730881422
rs730881422 		1.000 0.080 2 214730416 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2007 2016
dbSNP: rs1553612222
rs1553612222 		1.000 0.080 2 214728968 frameshift variant CCCAC/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2007 2016
dbSNP: rs587781707
rs587781707 		1.000 0.080 2 214752472 stop gained G/A;C snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2015 2016
dbSNP: rs587780024
rs587780024 		0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2010 2016
dbSNP: rs1553616339
rs1553616339 		1.000 0.080 2 214752424 splice donor variant CCAAAGCTAAATCCATACTTACTAC/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2012
dbSNP: rs1553628351
rs1553628351 		1.000 0.080 2 214809411 splice donor variant C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2012
dbSNP: rs1559426428
rs1559426428 		1.000 0.080 2 214781510 splice acceptor variant C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2012
dbSNP: rs750413473
rs750413473 		1.000 0.080 2 214728709 frameshift variant CA/- delins 3.2E-05 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2015
dbSNP: rs753785671
rs753785671 		1.000 0.080 2 214780559 splice donor variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2012
dbSNP: rs879254139
rs879254139 		0.925 0.200 2 214797118 splice acceptor variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2012
dbSNP: rs1057517589
rs1057517589 		1.000 0.080 2 214797099 frameshift variant TC/- delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1553612184
rs1553612184 		1.000 0.080 2 214728911 frameshift variant C/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1553612205
rs1553612205 		1.000 0.080 2 214728931 frameshift variant -/T delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1559441846
rs1559441846 		1.000 0.080 2 214797092 frameshift variant A/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2002 2002
dbSNP: rs772486760
rs772486760 		1.000 0.080 2 214781413 frameshift variant -/TCTT delins 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1060501287
rs1060501287 		1.000 0.080 2 214769302 frameshift variant G/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060501291
rs1060501291 		1.000 0.080 2 214780940 stop gained T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060501310
rs1060501310 		1.000 0.080 2 214752446 splice donor variant C/G;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1064792931
rs1064792931 		1.000 0.080 2 214752490 frameshift variant AGCAGCAATAGCGATTTCATACTTTCATCATCTGT/CGC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs111367604
rs111367604 		1.000 0.080 2 214728927 missense variant C/A;G;T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1350570988
rs1350570988 		1.000 0.080 2 214730473 stop gained G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1364256214
rs1364256214 		1.000 0.080 2 214780763 stop gained T/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1405646805
rs1405646805 		1.000 0.080 2 214767563 stop gained G/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1453894904
rs1453894904 		1.000 0.080 2 214781258 stop gained G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1482641121
rs1482641121 		1.000 0.080 2 214780875 frameshift variant GA/- delins 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0