BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Breast Carcinoma ×
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: rs80357522
rs80357522 		0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80357678
rs80357678 		0.851 0.200 17 43091614 frameshift variant AA/- del
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1800709
rs1800709 		0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 1996 1996
dbSNP: rs80356881
rs80356881 		0.882 0.080 17 43074454 stop gained G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1799950
rs1799950 		0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2002 2018
dbSNP: rs80357796
rs80357796 		0.752 0.240 17 43094464 frameshift variant T/- del
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2002 2008
dbSNP: rs1800744
rs1800744 		0.925 0.080 17 43074471 missense variant C/A snv 2.4E-03 2.4E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs80357138
rs80357138 		0.763 0.200 17 43094776 missense variant C/T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs748876625
rs748876625 		0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2003 2013
dbSNP: rs80357060
rs80357060 		0.925 0.080 17 43093169 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2003 2007
dbSNP: rs80357125
rs80357125 		0.882 0.080 17 43063940 missense variant C/A;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2003 2006
dbSNP: rs730881496
rs730881496 		0.925 0.080 17 43063340 missense variant A/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2003 2003
dbSNP: rs747364414
rs747364414 		0.882 0.080 17 43082496 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2004 2010
dbSNP: rs16941
rs16941 		0.827 0.240 17 43092418 missense variant T/C;G snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs4986854
rs4986854 		0.925 0.080 17 43071031 missense variant A/G snv 1.5E-03 9.6E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs80356886
rs80356886 		0.925 0.080 17 43091520 missense variant G/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs80356920
rs80356920 		0.925 0.080 17 43047699 stop gained A/T snv 9.9E-05 2.0E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs876658341
rs876658341 		0.925 0.080 17 43091811 missense variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
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: rs397509171
rs397509171 		0.851 0.200 17 43076573 stop gained G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs80357305
rs80357305 		0.851 0.200 17 43082503 stop gained G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs55906931
rs55906931 		0.925 0.080 17 43094075 missense variant A/G;T snv 2.8E-04; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs56012641
rs56012641 		0.925 0.080 17 43093883 missense variant T/G snv 2.6E-04 2.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs56187033
rs56187033 		0.851 0.200 17 43099786 missense variant T/C snv 2.6E-04 2.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006