BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
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: rs397509246
rs397509246 		1.000 0.080 17 43057071 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 1994 2017
dbSNP: rs397509275
rs397509275 		1.000 0.080 17 43049145 missense variant C/A;G snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 25 1994 2017
dbSNP: rs80357034
rs80357034 		0.882 0.200 17 43067610 missense variant G/A;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 1994 2017
dbSNP: rs1450793674
rs1450793674 		1.000 0.080 17 43091642 missense variant A/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 1.000 20 1994 2017
dbSNP: rs397507232
rs397507232 		1.000 0.080 17 43076516 missense variant T/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 20 1994 2017
dbSNP: rs41293447
rs41293447 		1.000 0.080 17 43092229 missense variant C/T snv 1.2E-04 6.2E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs45553935
rs45553935 		0.851 0.200 17 43057122 missense variant A/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 20 1994 2017
dbSNP: rs55688530
rs55688530 		1.000 0.080 17 43097280 missense variant G/A;T snv 6.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs55815649
rs55815649 		1.000 0.080 17 43074406 missense variant C/T snv 3.9E-04 1.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs56046357
rs56046357 		1.000 0.080 17 43094148 missense variant A/T snv 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 1994 2017
dbSNP: rs56195342
rs56195342 		1.000 0.080 17 43063368 missense variant T/C snv 1.8E-04 1.1E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs56214134
rs56214134 		0.925 0.080 17 43091931 missense variant C/A;G snv 1.2E-04; 2.3E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs587782190
rs587782190 		0.882 0.200 17 43091731 stop gained A/C;G snv 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 1994 2017
dbSNP: rs769650474
rs769650474 		1.000 0.080 17 43115727 missense variant T/G snv 1.2E-05 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs786202389
rs786202389 		1.000 0.080 17 43057091 missense variant G/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs786203152
rs786203152 		1.000 0.080 17 43124086 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs80356860
rs80356860 		0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs80356865
rs80356865 		1.000 0.080 17 43094797 missense variant T/A snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs80356890
rs80356890 		0.882 0.200 17 43067629 missense variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs80356913
rs80356913 		0.851 0.200 17 43106456 missense variant C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs80356923
rs80356923 		0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs80356929
rs80356929 		0.925 0.080 17 43124044 missense variant A/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 20 1994 2017
dbSNP: rs80357061
rs80357061 		0.882 0.200 17 43067616 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 20 1994 2017
dbSNP: rs80357064
rs80357064 		0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2017
dbSNP: rs80357069
rs80357069 		0.882 0.200 17 43049164 missense variant C/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 0.700 1.000 20 1994 2017