BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
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: rs80356959
rs80356959 		0.851 0.200 17 43045761 missense variant A/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 2007 2007
dbSNP: rs80357382
rs80357382 		0.763 0.240 17 43106457 missense variant T/C 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 2008 2008
dbSNP: rs80357474
rs80357474 		0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2017 2017
dbSNP: rs80357474
rs80357474 		0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06
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: rs80357906
rs80357906 		0.827 0.200 17 43057062 frameshift variant -/G delins 1.8E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 < 0.001 1 2019 2019
dbSNP: rs863224765
rs863224765 		0.851 0.200 17 43051086 missense variant C/A;G snv
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: rs886039981
rs886039981 		0.925 0.200 17 43093613 stop gained G/A snv
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 0.710 1.000 1 2014 2014
dbSNP: rs28897672
rs28897672 		0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-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 34 1994 2013
dbSNP: rs41293459
rs41293459 		0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-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 33 2001 2019
dbSNP: rs41293463
rs41293463 		0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-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 30 1994 2014
dbSNP: rs80357522
rs80357522 		0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-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 29 1995 2015
dbSNP: rs28897696
rs28897696 		0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-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 28 1994 2016
dbSNP: rs41293455
rs41293455 		0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-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 28 1994 2013
dbSNP: rs41293465
rs41293465 		0.851 0.200 17 43045767 stop gained G/A snv 1.2E-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 26 1996 2016
dbSNP: rs45553935
rs45553935 		0.851 0.200 17 43057122 missense variant A/C;G;T snv
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 26 2004 2019
dbSNP: rs397508869
rs397508869 		1.000 0.080 17 43094138 missense variant A/C 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: rs397508893
rs397508893 		1.000 0.080 17 43093876 missense variant C/A;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: rs397508994
rs397508994 		0.925 0.080 17 43092856 stop gained 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 1994 2017
dbSNP: rs397509022
rs397509022 		1.000 0.080 17 43092652 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 1994 2017
dbSNP: rs397509034
rs397509034 		1.000 0.080 17 43092457 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 25 1994 2017
dbSNP: rs397509037
rs397509037 		1.000 0.080 17 43092391 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 1994 2017
dbSNP: rs397509218
rs397509218 		1.000 0.080 17 43067624 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 25 1994 2017
dbSNP: rs397509238
rs397509238 		1.000 0.080 17 43057126 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 1994 2017
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