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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.080 0.625 8 2006 2012
dbSNP: rs28997576
rs28997576 		0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.080 0.500 8 2006 2012
dbSNP: rs587780021
rs587780021 		0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05
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 0.700 1.000 7 2012 2016
dbSNP: rs587780021
rs587780021 		0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2012 2017
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: rs3768716
rs3768716 		0.851 0.080 2 214771070 intron variant T/C snv 0.16
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.820 1.000 4 2009 2019
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: rs587781948
rs587781948 		0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2013 2017
dbSNP: rs587781948
rs587781948 		0.882 0.200 2 214730491 stop gained G/A snv 1.6E-05 3.5E-05
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 0.700 1.000 4 2016 2017
dbSNP: rs6435862
rs6435862 		0.827 0.160 2 214807822 intron variant G/A;C;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.830 1.000 4 2009 2019
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: rs17487792
rs17487792 		0.882 0.080 2 214778776 intron variant C/T snv 0.16
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.810 1.000 3 2009 2019
dbSNP: rs6435862
rs6435862 		0.827 0.160 2 214807822 intron variant G/A;C;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.030 1.000 3 2013 2019
dbSNP: rs6435862
rs6435862 		0.827 0.160 2 214807822 intron variant G/A;C;T snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.030 1.000 3 2013 2019
dbSNP: rs1048108
rs1048108 		0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2007 2013
dbSNP: rs1048108
rs1048108 		0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33
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: 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: rs17489363
rs17489363 		0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs17489363
rs17489363 		0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 1.000 2 2018 2019
dbSNP: rs17489363
rs17489363 		0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2018 2019
dbSNP: rs2070094
rs2070094 		0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2003 2006
dbSNP: rs2070094
rs2070094 		0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2003 2006
dbSNP: rs2229571
rs2229571 		0.925 0.080 2 214780740 missense variant C/G;T snv 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2007 2013