Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060502759
rs1060502759
PALB2
1.000 0.080 16 23630447 frameshift variant TTTT/-;TT;TTT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs515726060
rs515726060
PALB2
0.925 0.160 16 23635493 frameshift variant TTTG/- delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2013 2016
dbSNP: rs80357609
rs80357609
BRCA1
0.851 0.200 17 43091827 frameshift variant TTTAC/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1555616143
rs1555616143
BRIP1
0.882 0.280 17 61849155 frameshift variant TTCTT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 1 2015 2015
dbSNP: rs80359686
rs80359686
BRCA2
0.882 0.200 13 32362627 frameshift variant TTCCT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs876659571
rs876659571
PALB2
1.000 0.080 16 23629863 frameshift variant TTCA/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs72010703
rs72010703
CCNE1
0.925 0.080 19 29813348 intron variant TTAG/-;TTAGTTAG delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2014 2014
dbSNP: rs786203892
rs786203892
PALB2
1.000 0.080 16 23626232 splice donor variant TTACCT/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1553619713
rs1553619713
BARD1
1.000 0.080 2 214769278 frameshift variant TT/ATG delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs180177098
rs180177098
PALB2
1.000 0.080 16 23635495 frameshift variant TT/AGA delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs35256297
rs35256297
BABAM1 ; USHBP1
1.000 0.080 19 17266140 intron variant TT/-;T;TTT;TTTT delins 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 1 2010 2010
dbSNP: rs80357600
rs80357600
BRCA1
0.882 0.200 17 43093857 frameshift variant TT/-;T;TTT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357604
rs80357604
BRCA1
0.882 0.200 17 43104234 frameshift variant TT/-;T;TTT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1057519365
rs1057519365
BRIP1
0.851 0.320 17 61780931 frameshift variant TT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2011 2015
dbSNP: rs180177126
rs180177126
PALB2
0.925 0.200 16 23623044 frameshift variant TT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 2 2011 2016
dbSNP: rs11471161
rs11471161
LINC01291
0.925 0.080 2 74921567 intron variant TT/- delins 0.42
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs80357956
rs80357956
BRCA1
0.851 0.080 17 43091982 frameshift variant TT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs1060502687
rs1060502687
CHEK2
1.000 0.080 22 28711917 frameshift variant TT/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1555913094
rs1555913094
CHEK2
1.000 0.080 22 28694049 frameshift variant TT/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1555913493
rs1555913493
CHEK2
1.000 0.080 22 28695203 frameshift variant TT/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1569111699
rs1569111699
CHEK2
1.000 0.080 22 28695140 frameshift variant TT/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs875989789
rs875989789
PALB2
1.000 0.080 16 23636023 frameshift variant TT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs878855151
rs878855151
BRIP1
0.882 0.200 17 61684053 frameshift variant TT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs771028677
rs771028677
BRIP1
0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80359484
rs80359484
BRCA2
0.851 0.200 13 32339483 frameshift variant TGTA/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0