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: rs750413473
rs750413473 		1.000 0.080 2 214728709 frameshift variant CA/- delins 3.2E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2003 2015
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: rs587781707
rs587781707 		1.000 0.080 2 214752472 stop gained G/A;C snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2015 2016
dbSNP: rs730881422
rs730881422 		1.000 0.080 2 214730416 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2004 2017
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: rs7587476
rs7587476 		1.000 0.040 2 214789163 intron variant T/A;C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.800 1.000 2 2009 2012
dbSNP: rs1057517589
rs1057517589 		1.000 0.080 2 214797099 frameshift variant TC/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2014 2014
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: rs10932572
rs10932572 		1.000 0.040 2 214762673 intron variant A/G snv 0.42
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs1262069856
rs1262069856 		1.000 0.080 2 214728724 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1374230
rs1374230 		1.000 0.040 2 214754055 intron variant A/G snv 0.31
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
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: rs1553619349
rs1553619349 		1.000 0.080 2 214767643 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2008 2008
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: rs16852600
rs16852600 		1.000 0.040 2 214730921 non coding transcript exon variant C/T snv 0.30 0.26
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs2053710
rs2053710 		1.000 0.040 2 214751984 intron variant C/T snv 0.49
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs587782681
rs587782681 		1.000 0.080 2 214780662 stop gained G/C snv 4.0E-06 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs61754118
rs61754118 		1.000 0.080 2 214728798 missense variant T/C snv 7.7E-03 7.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005