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: rs148047459
rs148047459
MUL1
0.925 0.080 1 20501166 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1651654
rs1651654
C16orf87
0.925 0.080 16 46822677 intron variant T/C snv 0.79
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs16999593
rs16999593
DNMT1
0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs17217772
rs17217772
MSH2
0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1726801
rs1726801
POLD1
0.851 0.080 19 50401817 missense variant G/A snv 0.11 0.14
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1800067
rs1800067
ERCC4
0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1801157
rs1801157
CXCL12
0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs184967
rs184967
MSH3
0.925 0.080 5 80854162 missense variant A/G;T snv 0.87
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs200928781
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2046210
rs2046210 		0.708 0.280 6 151627231 intergenic variant G/A snv 0.41
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs2077197
rs2077197
PARP1
0.925 0.080 1 226408338 upstream gene variant C/G;T snv
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2228000
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs2228014
rs2228014
CXCR4
0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2249825
rs2249825
HMGB1
0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2278256
rs2278256
BABAM1 ; USHBP1
0.925 0.080 19 17267350 intron variant T/C snv 0.23
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2288349
rs2288349
DNMT1
0.882 0.120 19 10146569 intron variant G/A snv 0.36 0.35
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2491231
rs2491231
FLT3
0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2814778
rs2814778
ACKR1 ; CADM3-AS1
0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs3218536
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2015 2015