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: rs2229571
rs2229571 		0.925 0.080 2 214780740 missense variant C/G;T snv 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2007 2013
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: rs28997576
rs28997576 		0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2005 2006
dbSNP: rs3768716
rs3768716 		0.851 0.080 2 214771070 intron variant T/C snv 0.16
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 1.000 2 2016 2019
dbSNP: rs3768716
rs3768716 		0.851 0.080 2 214771070 intron variant T/C snv 0.16
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs730881411
rs730881411 		2 214781426 stop gained G/A;C snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2016 2017
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: rs758972589
rs758972589 		2 214792327 stop gained G/A;T snv 8.0E-06 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2013 2016
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: rs1048108
rs1048108 		0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1048108
rs1048108 		0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1048108
rs1048108 		0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
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: rs1393141051
rs1393141051 		2 214745749 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1393141051
rs1393141051 		2 214745749 missense variant T/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
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: 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: 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: rs17487792
rs17487792 		0.882 0.080 2 214778776 intron variant C/T snv 0.16
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17487792
rs17487792 		0.882 0.080 2 214778776 intron variant C/T snv 0.16
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2019 2019