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: rs28897672
rs28897672 		0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.870 1.000 12 2004 2019
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.810 0.833 6 2002 2014
dbSNP: rs55770810
rs55770810 		0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.810 1.000 6 2004 2014
dbSNP: rs41293455
rs41293455 		0.827 0.200 17 43082434 stop gained G/A;C snv 2.4E-05; 3.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 25 1994 2017
dbSNP: rs80357389
rs80357389 		0.882 0.200 17 43076488 missense variant C/A;G;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 25 1994 2017
dbSNP: rs80357474
rs80357474 		0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.800 1.000 16 2003 2017
dbSNP: rs45553935
rs45553935 		0.851 0.200 17 43057122 missense variant A/C;G;T snv
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.800 1.000 3 2013 2018
dbSNP: rs55770810
rs55770810 		0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.800 0
dbSNP: rs55770810
rs55770810 		0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		0.800 0
dbSNP: rs28897672
rs28897672 		0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.770 1.000 7 2005 2019
dbSNP: rs748876625
rs748876625 		0.807 0.160 17 43104122 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 0.740 0.958 24 1994 2017
dbSNP: rs41293459
rs41293459 		0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 23 1994 2019
dbSNP: rs28897672
rs28897672 		0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.730 1.000 3 2006 2010
dbSNP: rs28897672
rs28897672 		0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.730 1.000 3 2006 2010
dbSNP: rs41293463
rs41293463 		0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 21 1994 2017
dbSNP: rs55971303
rs55971303 		0.851 0.120 17 43104138 missense variant G/T snv 1.0E-04 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 21 1994 2017
dbSNP: rs80356920
rs80356920 		0.925 0.080 17 43047699 stop gained A/T snv 9.9E-05 2.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 21 1994 2017
dbSNP: rs80357090
rs80357090 		0.882 0.200 17 43097266 missense variant C/T snv 3.0E-04 2.2E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 0.952 21 1994 2017
dbSNP: rs80357064
rs80357064 		0.882 0.200 17 43106478 stop lost A/C;G 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 0.710 1.000 19 1994 2015
dbSNP: rs80357382
rs80357382 		0.763 0.240 17 43106457 missense variant T/C snv 4.0E-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 0.710 1.000 16 1999 2014
dbSNP: rs80357086
rs80357086 		0.851 0.200 17 43106480 stop gained A/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 0.710 1.000 11 1995 2019
dbSNP: rs80356923
rs80356923 		0.882 0.200 17 43091891 stop gained C/A;T snv 9.9E-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 0.710 1.000 10 1996 2014
dbSNP: rs41293459
rs41293459 		0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 1 2012 2012
dbSNP: rs80356898
rs80356898 		0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2003 2003
dbSNP: rs80356898
rs80356898 		0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 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 2003 2003