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: rs7585356
rs7585356 		1.000 0.160 2 214727582 3 prime UTR variant G/A snv 0.27
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
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: 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: 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: rs142155101
rs142155101 		0.925 0.120 2 214728728 missense variant C/T snv 1.7E-03 1.5E-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
dbSNP: rs142155101
rs142155101 		0.925 0.120 2 214728728 missense variant C/T snv 1.7E-03 1.5E-03
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.710 1.000 1 2005 2005
dbSNP: rs142155101
rs142155101 		0.925 0.120 2 214728728 missense variant C/T snv 1.7E-03 1.5E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs786202118
rs786202118 		2 214728742 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1559371635
rs1559371635 		2 214728742 frameshift variant C/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
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
dbSNP: rs977584514
rs977584514 		1.000 0.200 2 214728813 missense variant A/G snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs786203811
rs786203811 		2 214728861 frameshift variant TG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs1553612164
rs1553612164 		2 214728867 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
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: 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: 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: rs587782555
rs587782555 		0.882 0.080 2 214728935 missense variant A/G snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs587782555
rs587782555 		0.882 0.080 2 214728935 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs587782555
rs587782555 		0.882 0.080 2 214728935 missense variant A/G snv 7.0E-06
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1064796026
rs1064796026 		2 214728946 frameshift variant -/T delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
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: rs1559372682
rs1559372682 		2 214728993 frameshift variant -/AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs762601855
rs762601855 		2 214729009 splice acceptor variant C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs876658260
rs876658260 		2 214729010 splice acceptor variant T/A;C;G snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs768490891
rs768490891 		2 214730410 splice donor variant C/A;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0