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: rs137852986
rs137852986
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.710 < 0.001 1 2016 2016
dbSNP: rs137852985
rs137852985
1.000 0.080 17 61808488 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 2001 2014
dbSNP: rs756853672
rs756853672
0.925 0.200 17 61683645 frameshift variant G/- delins 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 6 2005 2016
dbSNP: rs587780833
rs587780833
0.925 0.200 17 61847100 splice donor variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2005 2016
dbSNP: rs775537066
rs775537066
0.925 0.200 17 61776487 frameshift variant -/A delins 8.0E-06 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2006 2018
dbSNP: rs1295703239
rs1295703239
0.925 0.200 17 61685952 frameshift variant AGAT/-;AGATAGAT delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2008 2011
dbSNP: rs1555573327
rs1555573327
0.925 0.200 17 61685949 frameshift variant G/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2008 2011
dbSNP: rs786203700
rs786203700
0.882 0.280 17 61857233 splice acceptor variant T/C 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 4 2005 2016
dbSNP: rs1555607022
rs1555607022
0.925 0.200 17 61799099 splice donor variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2005 2011
dbSNP: rs1555607628
rs1555607628
0.925 0.200 17 61801252 splice donor variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2005 2011
dbSNP: rs587782047
rs587782047
0.925 0.200 17 61861446 splice donor variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2005 2011
dbSNP: rs786203451
rs786203451
0.925 0.200 17 61693513 splice acceptor variant C/G;T 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 3 2005 2011
dbSNP: rs876659707
rs876659707
0.925 0.200 17 61847222 splice acceptor variant T/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2005 2011
dbSNP: rs876660203
rs876660203
0.882 0.280 17 61685835 splice donor variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2005 2011
dbSNP: rs1057519365
rs1057519365
0.851 0.320 17 61780931 frameshift variant TT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2011 2015
dbSNP: rs1060501774
rs1060501774
0.925 0.200 17 61683718 stop gained C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2011
dbSNP: rs1420431000
rs1420431000
0.925 0.200 17 61683816 stop gained A/C snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2011
dbSNP: rs1555572698
rs1555572698
0.925 0.200 17 61683736 stop gained C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2011
dbSNP: rs368796923
rs368796923
0.882 0.280 17 61799200 stop gained G/A 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 2 2017 2018
dbSNP: rs587780228
rs587780228
0.882 0.280 17 61793698 stop gained C/A;G snv 4.0E-06 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs587780236
rs587780236
0.882 0.280 17 61743118 frameshift variant -/A delins 8.0E-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 2 2016 2016
dbSNP: rs748598593
rs748598593
0.925 0.200 17 61683838 frameshift variant A/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2011
dbSNP: rs774684620
rs774684620
0.925 0.200 17 61684099 frameshift variant T/-;TT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2008 2011
dbSNP: rs1292988272
rs1292988272
1.000 0.080 17 61857196 frameshift variant C/- del 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555616143
rs1555616143
0.882 0.280 17 61849155 frameshift variant TTCTT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015