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: rs17879961
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.800 0.929 17 2001 2016
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.080 1.000 8 2001 2016
dbSNP: rs1799814
rs1799814
CYP1A1
0.807 0.160 15 74720646 missense variant G/A;T snv 1.6E-05; 3.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2001 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.902 61 2002 2019
dbSNP: rs1056836
rs1056836
CYP1B1
0.581 0.680 2 38071060 missense variant G/C snv 0.51
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.632 19 2002 2019
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 0.944 18 2002 2019
dbSNP: rs3218536
rs3218536
XRCC2
0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.090 0.667 9 2002 2014
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: rs1801282
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 0.857 7 2002 2018
dbSNP: rs1042838
rs1042838
PGR
0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.667 6 2002 2020
dbSNP: rs1805192
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 0.800 5 2002 2017
dbSNP: rs1800057
rs1800057
ATM
0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2002 2018
dbSNP: rs2236722
rs2236722
CYP19A1 ; MIR4713HG
0.851 0.120 15 51242798 missense variant A/G snv 3.4E-03 9.1E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 1.000 4 2002 2010
dbSNP: rs523349
rs523349
SRD5A2
0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 0.500 4 2002 2015
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2002 2018
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: rs746702110
rs746702110
OGG1
0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2002 2010
dbSNP: rs747504890
rs747504890
BCL2
0.925 0.080 18 63318285 missense variant C/T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2002 2004
dbSNP: rs80357796
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2002 2008
dbSNP: rs9282858
rs9282858
SRD5A2
0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2002 2014
dbSNP: rs941759532
rs941759532
ERCC4
0.763 0.240 16 13932175 missense variant C/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2002 2010
dbSNP: rs1800744
rs1800744
BRCA1
0.925 0.080 17 43074471 missense variant C/A snv 2.4E-03 2.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2002 2002
dbSNP: rs200928781
rs200928781
CHEK2
0.752 0.240 22 28695800 missense variant T/A;C;G snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.810 1.000 1 2002 2018
dbSNP: rs28897696
rs28897696
BRCA1
0.807 0.200 17 43063903 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 2.0E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.810 0.833 1 2002 2014
dbSNP: rs28909982
rs28909982
CHEK2
0.925 0.080 22 28725338 missense variant T/C snv 1.2E-04 9.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2002 2019