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: 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: 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: 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: 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: 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: rs587780021
rs587780021
0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05
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: 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: 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
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: 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: 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: rs587780024
rs587780024
0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins
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 2 2010 2012
dbSNP: rs587780024
rs587780024
0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2010 2015
dbSNP: rs587780033
rs587780033
2 214781251 frameshift variant T/-;TT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2015 2016
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: 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