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: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2012
dbSNP: rs113211432
rs113211432 		0.882 0.080 2 214767532 frameshift variant -/TG delins
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2070094
rs2070094 		0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs386654966
rs386654966 		0.882 0.080 2 214767531 missense variant CA/AG;TG mnv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs587781707
rs587781707 		1.000 0.080 2 214752472 stop gained G/A;C snv 1.2E-05
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		0.700 0
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: 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: rs113211432
rs113211432 		0.882 0.080 2 214767532 frameshift variant -/TG delins
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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
dbSNP: rs386654966
rs386654966 		0.882 0.080 2 214767531 missense variant CA/AG;TG mnv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2003 2006
dbSNP: rs376256852
rs376256852 		0.925 0.080 2 214745739 missense variant G/A;T snv 8.0E-06; 1.6E-05
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs28997576
rs28997576 		0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2006 2006
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: 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: 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: 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: 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: rs3738888
rs3738888 		0.882 0.080 2 214730440 missense variant G/A;T snv 8.4E-03
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3768707
rs3768707 		0.882 0.080 2 214780411 intron variant A/G snv 0.74
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 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: 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: 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: 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