BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Mammary Neoplasms ×
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: rs80357287
rs80357287 		0.882 0.200 17 43124096 start lost T/C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80357973
rs80357973 		0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 13 1976 2016
dbSNP: rs397508940
rs397508940 		1.000 17 43104958 splice acceptor variant T/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs80358146
rs80358146 		1.000 17 43104957 splice acceptor variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1800747
rs1800747 		0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80357772
rs80357772 		0.925 0.200 17 43094549 frameshift variant AT/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2004 2016
dbSNP: rs1057517590
rs1057517590 		1.000 17 43063370 frameshift variant A/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs397508979
rs397508979 		17 43092974 frameshift variant -/GAAAAGTGAA ins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs80357635
rs80357635 		0.882 0.200 17 43092302 frameshift variant CT/- delins 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs80357783
rs80357783 		0.851 0.200 17 43124030 frameshift variant -/T delins 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs80357787
rs80357787 		0.925 0.200 17 43091008 frameshift variant TC/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2004 2004
dbSNP: rs886037784
rs886037784 		1.000 17 43099803 frameshift variant A/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037785
rs886037785 		1.000 17 43091708 frameshift variant TACCT/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037786
rs886037786 		1.000 17 43094231 frameshift variant -/G delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037788
rs886037788 		17 43091461 frameshift variant -/TCAA ins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037789
rs886037789 		17 43071159 frameshift variant T/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037790
rs886037790 		1.000 17 43071202 frameshift variant A/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057518636
rs1057518636 		1.000 17 43047646 frameshift variant -/A ins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060505051
rs1060505051 		1.000 17 43091883 frameshift variant AAGTT/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555581104
rs1555581104 		1.000 17 43071235 frameshift variant CC/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80357522
rs80357522 		0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80357701
rs80357701 		0.925 0.200 17 43092197 frameshift variant GCTT/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80357706
rs80357706 		0.925 0.200 17 43093125 frameshift variant CA/- delins 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80357714
rs80357714 		0.925 0.200 17 43094150 frameshift variant -/T delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs80357718
rs80357718 		0.925 0.200 17 43071198 frameshift variant AAGAG/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0