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: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.020 1.000 2 2011 2016
dbSNP: rs2046210
rs2046210 		0.708 0.280 6 151627231 intergenic variant G/A snv 0.41
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.020 1.000 2 2011 2014
dbSNP: rs2981582
rs2981582
FGFR2
0.695 0.360 10 121592803 intron variant A/G snv 0.58
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.020 1.000 2 2011 2013
dbSNP: rs700518
rs700518
CYP19A1 ; MIR4713HG
0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.020 1.000 2 2013 2015
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
0.677 0.320 9 22062135 intron variant G/T snv 0.23
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2008 2008
dbSNP: rs10771399
rs10771399 		0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2012 2012
dbSNP: rs10822013
rs10822013
ZNF365
0.851 0.080 10 62492218 intron variant C/T snv 0.42
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs10995190
rs10995190
ZNF365
0.882 0.080 10 62518923 intron variant G/A snv 0.16
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2012 2012
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2017 2017
dbSNP: rs1292011
rs1292011
LOC105370003
0.851 0.080 12 115398717 regulatory region variant A/G snv 0.43
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2012 2012
dbSNP: rs12998806
rs12998806
LOC101928278 ; LOC105373874
0.925 2 217029040 intergenic variant G/A snv 0.18
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs13074711
rs13074711 		1.000 3 172550013 regulatory region variant T/C snv 0.17
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs13267382
rs13267382
LINC00536
0.882 0.080 8 116197325 intron variant A/G snv 0.45
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2017 2017
dbSNP: rs13387042
rs13387042
LOC101928278 ; LOC105373874
0.732 0.280 2 217041109 intergenic variant A/G snv 0.44
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2009 2009
dbSNP: rs1432679
rs1432679
EBF1
0.851 0.080 5 158817075 intron variant C/T snv 0.44
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs16917302
rs16917302
ZNF365
0.851 0.080 10 62501439 intron variant A/C snv 0.18
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2012 2012
dbSNP: rs190843378
rs190843378 		0.925 2 218841159 upstream gene variant C/T snv 1.3E-02
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2017 2017
dbSNP: rs2016347
rs2016347
IGF1R
0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2014 2014
dbSNP: rs2059614
rs2059614
PKNOX2
1.000 11 125389528 intron variant A/G snv 5.3E-02
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2015 2015
dbSNP: rs2209314
rs2209314
CYP24A1
0.925 0.040 20 54162422 intron variant T/C snv 0.22
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 < 0.001 1 2012 2012
dbSNP: rs2236722
rs2236722
CYP19A1 ; MIR4713HG
0.851 0.120 15 51242798 missense variant A/G snv 3.4E-03 9.1E-04
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2008 2008
dbSNP: rs2284378
rs2284378
RALY
0.851 0.080 20 34000289 intron variant T/C;G snv
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 < 0.001 1 2012 2012
dbSNP: rs2363956
rs2363956
ANKLE1
0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2010 2010
dbSNP: rs250108
rs250108
FGF1 ; SPRY4-AS1
0.925 5 142614908 intron variant G/A snv 0.24
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2013 2013