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: rs6712055
rs6712055 		1.000 0.040 2 214802180 intron variant T/C snv 0.27
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs6715570
rs6715570 		1.000 0.040 2 214808716 intron variant T/A;C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs7557557
rs7557557 		1.000 0.040 2 214769903 3 prime UTR variant C/T snv 0.44
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs7584646
rs7584646 		1.000 0.040 2 214764598 intron variant A/G snv 0.41
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
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: rs772486760
rs772486760 		1.000 0.080 2 214781413 frameshift variant -/TCTT delins 4.0E-06 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 2016 2016
dbSNP: rs895459
rs895459 		1.000 0.040 2 214735533 intron variant G/A snv 0.34
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
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: rs1060501287
rs1060501287 		1.000 0.080 2 214769302 frameshift variant G/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060501291
rs1060501291 		1.000 0.080 2 214780940 stop gained T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060501310
rs1060501310 		1.000 0.080 2 214752446 splice donor variant C/G;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1064792931
rs1064792931 		1.000 0.080 2 214752490 frameshift variant AGCAGCAATAGCGATTTCATACTTTCATCATCTGT/CGC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
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: rs1350570988
rs1350570988 		1.000 0.080 2 214730473 stop gained G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1364256214
rs1364256214 		1.000 0.080 2 214780763 stop gained T/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1405646805
rs1405646805 		1.000 0.080 2 214767563 stop gained G/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1453894904
rs1453894904 		1.000 0.080 2 214781258 stop gained G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1482641121
rs1482641121 		1.000 0.080 2 214780875 frameshift variant GA/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1482641121
rs1482641121 		1.000 0.080 2 214780875 frameshift variant GA/- delins 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553614963
rs1553614963 		1.000 0.080 2 214745136 frameshift variant -/A delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553615102
rs1553615102 		1.000 0.080 2 214745728 frameshift variant GTCAAACTCAGTATATTTT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553616352
rs1553616352 		1.000 0.080 2 214752460 frameshift variant -/TAGCTGAGGATGATTCATTCTTCTCTGGT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553619258
rs1553619258 		1.000 0.080 2 214767550 frameshift variant -/T delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553619349
rs1553619349 		1.000 0.080 2 214767643 stop gained G/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553619713
rs1553619713 		1.000 0.080 2 214769278 frameshift variant TT/ATG delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0