Source: CURATED

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: rs41293459
rs41293459
BRCA1
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 20 1994 2019
dbSNP: rs180177132
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 9 2010 2016
dbSNP: rs1562430
rs1562430
POU5F1B ; CASC8 ; PCAT1 ; CASC21
0.807 0.160 8 127375606 intron variant T/C snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 2 2010 2015
dbSNP: rs17530068
rs17530068
LOC105377871
0.882 0.120 6 81483392 intergenic variant T/C snv 0.19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 2 2012 2020
dbSNP: rs16886165
rs16886165 		0.882 0.160 5 56727256 intergenic variant T/C;G snv 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 1 2009 2014
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 1 2012 2015
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 1 2011 2016
dbSNP: rs4245739
rs4245739
MDM4
0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 0.750 1 2013 2018
dbSNP: rs121913273
rs121913273
PIK3CA
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 0 2014 2019
dbSNP: rs80359065
rs80359065
BRCA2
0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 0 2003 2017
dbSNP: rs180177111
rs180177111
PALB2
0.925 0.080 16 23629831 stop gained G/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 5 2007 2013
dbSNP: rs536907995
rs536907995
CHEK2
0.882 0.120 22 28734664 stop gained G/A snv 1.4E-04 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 3 2014 2016
dbSNP: rs17817449
rs17817449
FTO
0.716 0.560 16 53779455 intron variant T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 2 2013 2015
dbSNP: rs704010
rs704010
ZMIZ1
0.851 0.080 10 79081391 intron variant T/C snv 0.71
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 2 2010 2016
dbSNP: rs10822013
rs10822013
ZNF365
0.851 0.080 10 62492218 intron variant C/T snv 0.42
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2011 2016
dbSNP: rs11075995
rs11075995
FTO
0.882 0.080 16 53821379 intron variant A/T snv 0.77
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2013 2017
dbSNP: rs12922061
rs12922061
CASC16
0.925 0.080 16 52601088 intron variant C/T snv 0.19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2013 2019
dbSNP: rs1432679
rs1432679
EBF1
0.851 0.080 5 158817075 intron variant C/T snv 0.44
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2013 2016
dbSNP: rs180177143
rs180177143
PALB2
0.882 0.080 16 23637886 frameshift variant ACAA/- delins 4.0E-05 3.5E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2013 2019
dbSNP: rs2363956
rs2363956
ANKLE1
0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2010 2019
dbSNP: rs2380205
rs2380205 		0.882 0.080 10 5844771 upstream gene variant C/T snv 0.47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2010 2012
dbSNP: rs2588809
rs2588809
RAD51B
0.807 0.160 14 68193711 intron variant T/C snv 0.80
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2013 2016
dbSNP: rs3750817
rs3750817
FGFR2
0.851 0.080 10 121573063 intron variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2009 2012
dbSNP: rs9383938
rs9383938
ESR1
0.827 0.160 6 151666222 intron variant G/T snv 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2011 2014
dbSNP: rs9485372
rs9485372
TAB2
0.807 0.120 6 149287738 intron variant G/A snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 1 2012 2018