Source: BEFREE

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: rs2981578
rs2981578
FGFR2
0.925 0.080 10 121580797 intron variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.790 0.909 9 2007 2018
dbSNP: rs4415084
rs4415084 		0.827 0.080 5 44662413 upstream gene variant C/T snv 0.49
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.790 1.000 9 2008 2018
dbSNP: rs1213469537
rs1213469537
CAV1
0.882 0.080 7 116559145 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.780 1.000 8 2002 2013
dbSNP: rs10995190
rs10995190
ZNF365
0.882 0.080 10 62518923 intron variant G/A snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.770 1.000 7 2010 2017
dbSNP: rs8051542
rs8051542
TOX3
0.925 0.080 16 52500255 intron variant T/C snv 0.61
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.770 0.875 7 2007 2019
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.760 1.000 6 2000 2013
dbSNP: rs10771399
rs10771399 		0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.750 1.000 5 2012 2016
dbSNP: rs17822931
rs17822931
ABCC11
0.827 0.080 16 48224287 missense variant C/G;T snv 4.0E-06; 0.22 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 0.800 5 2009 2019
dbSNP: rs1292011
rs1292011
LOC105370003
0.851 0.080 12 115398717 regulatory region variant A/G snv 0.43
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.740 1.000 4 2012 2015
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2006 2010
dbSNP: rs865686
rs865686
LOC105376214
0.851 0.080 9 108126198 regulatory region variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.740 1.000 4 2011 2016
dbSNP: rs1064795369
rs1064795369
TP53
0.882 0.080 17 7673791 missense variant A/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2003 2013
dbSNP: rs11571653
rs11571653
BRCA2
0.925 0.080 13 32336705 missense variant A/G snv 2.3E-04 1.7E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2003 2017
dbSNP: rs120963
rs120963
NDUFAB1
0.925 0.080 16 23596749 upstream gene variant A/G snv 0.28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2008 2018
dbSNP: rs17468277
rs17468277
FLACC1
0.925 0.080 2 201289477 synonymous variant C/A;T snv 4.0E-06; 9.0E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2010 2017
dbSNP: rs1800058
rs1800058
ATM
0.925 0.080 11 108289623 missense variant C/T snv 1.1E-02 1.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2003 2007
dbSNP: rs1805414
rs1805414
PARP1
0.925 0.080 1 226385663 synonymous variant A/G snv 0.43 0.42
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2007 2018
dbSNP: rs2823093
rs2823093 		0.882 0.080 21 15148511 intergenic variant G/A snv 0.32
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 0.750 3 2012 2015
dbSNP: rs28363284
rs28363284
RAD51D ; RAD51L3-RFFL
0.882 0.080 17 35103294 missense variant T/C snv 9.7E-03 1.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2004 2010
dbSNP: rs3734805
rs3734805
CCDC170 ; LOC107986528
0.925 0.080 6 151618215 3 prime UTR variant A/C snv 6.9E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 3 2011 2016
dbSNP: rs3738414
rs3738414
VTCN1
0.925 0.080 1 117210906 5 prime UTR variant G/A;T snv 3.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2009 2015
dbSNP: rs3741378
rs3741378
SIPA1
0.851 0.080 11 65641466 missense variant C/G;T snv 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.333 3 2009 2014
dbSNP: rs3750913
rs3750913
NUMA1 ; LOC100128494
0.925 0.080 11 72015122 missense variant G/C snv 3.4E-02 2.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2005 2008
dbSNP: rs4986761
rs4986761
ATM
0.925 0.080 11 108254034 missense variant T/C snv 8.0E-03 7.7E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2002 2008
dbSNP: rs4987117
rs4987117
BRCA2
0.925 0.080 13 32340099 missense variant C/T snv 1.8E-02 1.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2005 2019