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: 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: 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: 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: 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: 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: rs10932572
rs10932572 		1.000 0.040 2 214762673 intron variant A/G snv 0.42
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs1374230
rs1374230 		1.000 0.040 2 214754055 intron variant A/G snv 0.31
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
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: rs2053710
rs2053710 		1.000 0.040 2 214751984 intron variant C/T snv 0.49
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.700 1.000 1 2009 2009
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: 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: rs6435862
rs6435862 		0.827 0.160 2 214807822 intron variant G/A;C;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs6435862
rs6435862 		0.827 0.160 2 214807822 intron variant G/A;C;T snv
CUI: C0280216
Disease: stage, neuroblastoma
stage, neuroblastoma 		Neoplasms 0.010 1.000 1 2016 2016
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: 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: 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: 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