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: rs799917
rs799917
0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.030 1.000 3 2009 2018
dbSNP: rs16941
rs16941
0.827 0.240 17 43092418 missense variant T/C;G snv 0.35
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2004 2018
dbSNP: rs1799966
rs1799966
0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 0.500 2 2007 2018
dbSNP: rs1800709
rs1800709
0.851 0.160 17 43093010 missense variant G/A snv 1.7E-03 1.4E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 1996 1998
dbSNP: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 1998 2011
dbSNP: rs41293459
rs41293459
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2007 2012
dbSNP: rs748876625
rs748876625
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2000 2005
dbSNP: rs786203797
rs786203797
17 43095876 missense variant C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 < 0.001 2 2003 2006
dbSNP: rs1799950
rs1799950
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs397508938
rs397508938
1.000 17 43106457 frameshift variant T/-;TT delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs397508986
rs397508986
0.807 0.280 17 43092919 frameshift variant G/AA delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs397509239
rs397509239
1.000 17 43057122 frameshift variant A/- del
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs45553935
rs45553935
0.851 0.200 17 43057122 missense variant A/C;G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs750275408
rs750275408
17 43104237 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs80356913
rs80356913
0.851 0.200 17 43106456 missense variant C/A;G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs80356991
rs80356991
0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs80357086
rs80357086
0.851 0.200 17 43106480 stop gained A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs80357357
rs80357357
17 43104165 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs80357432
rs80357432
0.925 0.200 17 43057069 stop gained C/A;G;T snv 4.0E-06; 3.6E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs80357610
rs80357610
0.851 0.160 17 43094550 frameshift variant GT/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs886039925
rs886039925
1.000 17 43094481 frameshift variant TC/- delins
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2010 2010