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: rs180177132
rs180177132
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 10 2010 2016
dbSNP: rs180177111
rs180177111
0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 5 2007 2013
dbSNP: rs180177143
rs180177143
0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 3 2013 2019
dbSNP: rs141047069
rs141047069
0.925 0.080 16 23638074 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 3 2007 2017
dbSNP: rs180177110
rs180177110
0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 3 2007 2019
dbSNP: rs515726123
rs515726123
0.882 0.080 16 23636036 frameshift variant CT/- delins 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 2 2010 2018
dbSNP: rs180177097
rs180177097
0.882 0.080 16 23635519 stop gained G/A 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: rs587782462
rs587782462
1.000 0.080 16 23641140 synonymous variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 1 2019 2019
dbSNP: rs118203998
rs118203998
0.790 0.400 16 23603471 stop gained G/C;T snv 1.6E-05; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 15 2007 2016
dbSNP: rs1567206804
rs1567206804
1.000 0.080 16 23607911 frameshift variant AG/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 8 2006 2015
dbSNP: rs515726126
rs515726126
1.000 0.080 16 23635787 frameshift variant -/A delins 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 8 2012 2017
dbSNP: rs587776428
rs587776428
1.000 0.080 16 23603512 frameshift variant AG/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 8 2009 2016
dbSNP: rs180177127
rs180177127
1.000 0.080 16 23622982 frameshift variant -/A delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 2007 2016
dbSNP: rs587776426
rs587776426
1.000 0.080 16 23603563 frameshift variant -/T delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 2009 2016
dbSNP: rs180177083
rs180177083
0.925 0.200 16 23637865 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 6 2011 2015
dbSNP: rs773829275
rs773829275
1.000 0.080 16 23603526 stop gained G/A;T snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 6 2007 2015
dbSNP: rs1555457841
rs1555457841
1.000 0.080 16 23603497 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2007 2016
dbSNP: rs1567204928
rs1567204928
1.000 0.080 16 23603476 frameshift variant -/AA delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1567204932
rs1567204932
1.000 0.080 16 23603477 frameshift variant AATA/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2007 2015
dbSNP: rs180177136
rs180177136
1.000 0.080 16 23607860 splice region variant T/C;G 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 5 2007 2016
dbSNP: rs515726104
rs515726104
1.000 0.080 16 23621427 frameshift variant A/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2012 2016
dbSNP: rs180177092
rs180177092
0.851 0.280 16 23635788 frameshift variant AG/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2007 2015
dbSNP: rs515726067
rs515726067
1.000 0.080 16 23635229 frameshift variant C/- delins 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2010 2016
dbSNP: rs587776410
rs587776410
1.000 0.080 16 23635505 frameshift variant CTTTT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2013 2014
dbSNP: rs118203999
rs118203999
0.925 0.200 16 23623003 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2007 2011