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: 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: rs28897759
rs28897759
BRCA2
0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.810 1.000 1 2014 2014
dbSNP: rs55770810
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.810 1.000 1 2004 2014
dbSNP: rs10736303
rs10736303
FGFR2
0.882 0.120 10 121574943 intron variant G/A snv 0.40
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2007 2012
dbSNP: rs10759243
rs10759243 		0.925 0.080 9 107543834 upstream gene variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2013 2016
dbSNP: rs11242675
rs11242675 		0.925 0.080 6 1318643 downstream gene variant C/T snv 0.58
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 0.500 1 2013 2015
dbSNP: rs11552449
rs11552449
AP4B1 ; DCLRE1B
0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2013 2018
dbSNP: rs11780156
rs11780156
PVT1
0.925 0.080 8 128182395 intron variant C/T snv 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2013 2016
dbSNP: rs121917739
rs121917739
RAD51
0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2000 2015
dbSNP: rs12493607
rs12493607
TGFBR2
0.882 0.080 3 30641447 intron variant G/C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2013 2014
dbSNP: rs12710696
rs12710696
LINC01376
0.925 0.080 2 19121042 intron variant T/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2013 2015
dbSNP: rs13329835
rs13329835
CDYL2
0.925 0.080 16 80616908 intron variant A/G snv 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2013 2013
dbSNP: rs13393577
rs13393577
ERBB4
0.851 0.120 2 212432139 intron variant T/C snv 0.10
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2012 2012
dbSNP: rs137852986
rs137852986
BRIP1
0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 < 0.001 1 2016 2016
dbSNP: rs141047069
rs141047069
PALB2
0.925 0.080 16 23638074 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2007 2017
dbSNP: rs180177097
rs180177097
PALB2
0.882 0.080 16 23635519 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2016 2016
dbSNP: rs180177110
rs180177110
PALB2
0.882 0.200 16 23629897 stop gained G/A;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2007 2019
dbSNP: rs2075555
rs2075555
COL1A1
0.807 0.240 17 50196930 intron variant T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 0.500 1 2007 2011
dbSNP: rs2284378
rs2284378
RALY
0.851 0.080 20 34000289 intron variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 < 0.001 1 2012 2012
dbSNP: rs28897743
rs28897743
BRCA2
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2020 2020
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
dbSNP: rs2981575
rs2981575
FGFR2
0.882 0.120 10 121586602 intron variant G/A snv 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2007 2010
dbSNP: rs3112612
rs3112612
CASC16
0.882 0.080 16 52601252 intron variant G/A snv 0.44
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 2011 2014
dbSNP: rs41293463
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 1 1994 2017