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: 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: 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
dbSNP: rs3738888
rs3738888 		0.882 0.080 2 214730440 missense variant G/A;T snv 8.4E-03
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3768707
rs3768707 		0.882 0.080 2 214780411 intron variant A/G snv 0.74
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 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: 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: 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: 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: rs786202118
rs786202118 		2 214728742 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs796666047
rs796666047 		0.925 0.200 2 214780669 stop gained G/C;T snv 8.0E-06
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 1 2017 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: 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: rs3768716
rs3768716 		0.851 0.080 2 214771070 intron variant T/C snv 0.16
CUI: C0280216
Disease: stage, neuroblastoma
stage, neuroblastoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs587780021
rs587780021 		0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016