BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Malignant neoplasm of breast ×
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: rs28897759
rs28897759 		0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 1 2014 2014
dbSNP: rs45580035
rs45580035 		0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 25 1997 2014
dbSNP: rs41293511
rs41293511 		0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 5 2004 2014
dbSNP: rs80359014
rs80359014 		0.763 0.320 13 32362596 missense variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs11571833
rs11571833 		0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.740 0.800 5 2013 2016
dbSNP: rs80359065
rs80359065 		0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 3 2003 2017
dbSNP: rs80358755
rs80358755 		0.925 0.080 13 32339667 missense variant G/A;T snv 3.4E-04; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 21 1997 2016
dbSNP: rs28897743
rs28897743 		0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2020 2020
dbSNP: rs80358807
rs80358807 		0.763 0.280 13 32340146 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2017 2017
dbSNP: rs80359078
rs80359078 		0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2016 2016
dbSNP: rs80359182
rs80359182 		0.925 0.080 13 32319100 missense variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2019 2019
dbSNP: rs80359198
rs80359198 		0.882 0.200 13 32394717 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 7.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 1996 1996
dbSNP: rs397507595
rs397507595 		1.000 0.080 13 32319167 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 25 1997 2014
dbSNP: rs397507674
rs397507674 		1.000 0.080 13 32337891 missense variant G/A 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 25 1997 2014
dbSNP: rs397507770
rs397507770 		1.000 0.080 13 32339543 missense variant A/T snv 8.2E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 25 1997 2014
dbSNP: rs397507822
rs397507822 		1.000 0.080 13 32326584 missense variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 25 1997 2014
dbSNP: rs397507847
rs397507847 		1.000 0.080 13 32340739 missense variant A/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 25 1997 2014
dbSNP: rs397507873
rs397507873 		1.000 0.080 13 32329475 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 25 1997 2014
dbSNP: rs397507912
rs397507912 		0.882 0.200 13 32355219 stop gained C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 25 1997 2014
dbSNP: rs80358507
rs80358507 		1.000 0.080 13 32319250 missense variant T/A;C;G snv 2.4E-05; 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 25 1997 2014
dbSNP: rs28897716
rs28897716 		1.000 0.080 13 32337158 missense variant G/A;C;T snv 6.1E-04; 6.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1997 2006
dbSNP: rs28897744
rs28897744 		1.000 0.080 13 32356536 missense variant C/T snv 5.8E-04 4.8E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1997 2006
dbSNP: rs28897749
rs28897749 		0.882 0.120 13 32363384 missense variant G/A;C snv 2.1E-03; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1997 2006
dbSNP: rs370252983
rs370252983 		1.000 0.080 13 32339766 missense variant T/C snv 3.2E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1997 2006
dbSNP: rs397507615
rs397507615 		1.000 0.080 13 32319200 missense 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 20 1997 2006