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: rs750413473
rs750413473
1.000 0.080 2 214728709 frameshift variant CA/- delins 3.2E-05 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2015
dbSNP: rs1262069856
rs1262069856
1.000 0.080 2 214728724 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs142155101
rs142155101
0.925 0.120 2 214728728 missense variant C/T snv 1.7E-03 1.5E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs61754118
rs61754118
1.000 0.080 2 214728798 missense variant T/C snv 7.7E-03 7.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1553612184
rs1553612184
1.000 0.080 2 214728911 frameshift variant C/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2007 2007
dbSNP: rs111367604
rs111367604
1.000 0.080 2 214728927 missense variant C/A;G;T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553612205
rs1553612205
1.000 0.080 2 214728931 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 1 2007 2007
dbSNP: rs587782555
rs587782555
0.882 0.080 2 214728935 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1553612222
rs1553612222
1.000 0.080 2 214728968 frameshift variant CCCAC/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2007 2016
dbSNP: rs730881422
rs730881422
1.000 0.080 2 214730416 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: rs587780024
rs587780024
0.925 0.200 2 214730458 stop gained CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2010 2016
dbSNP: rs1350570988
rs1350570988
1.000 0.080 2 214730473 stop gained G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs773223671
rs773223671
1.000 0.080 2 214730507 stop gained C/A;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs864622239
rs864622239
1.000 0.080 2 214730510 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 0
dbSNP: rs876659572
rs876659572
1.000 0.080 2 214745098 frameshift variant A/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553614963
rs1553614963
1.000 0.080 2 214745136 frameshift variant -/A delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553615102
rs1553615102
1.000 0.080 2 214745728 frameshift variant GTCAAACTCAGTATATTTT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs376256852
rs376256852
0.925 0.080 2 214745739 missense variant G/A;T snv 8.0E-06; 1.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1559387024
rs1559387024
1.000 0.080 2 214745774 frameshift variant A/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587780021
rs587780021
0.851 0.200 2 214745842 stop gained G/A snv 2.4E-05 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553616339
rs1553616339
1.000 0.080 2 214752424 splice donor variant CCAAAGCTAAATCCATACTTACTAC/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2012
dbSNP: rs1060501310
rs1060501310
1.000 0.080 2 214752446 splice donor 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 0
dbSNP: rs28997576
rs28997576
0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.080 0.625 8 2006 2012
dbSNP: rs1553616352
rs1553616352
1.000 0.080 2 214752460 frameshift variant -/TAGCTGAGGATGATTCATTCTTCTCTGGT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587781707
rs587781707
1.000 0.080 2 214752472 stop gained G/A;C snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2015 2016