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: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2011 2018
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: rs777081311
rs777081311
ERBB2
0.925 0.080 17 39710347 missense variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2005 2012
dbSNP: rs981782
rs981782
HCN1
0.851 0.080 5 45285616 intron variant A/C snv 0.34
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2012 2016
dbSNP: rs10484919
rs10484919
ESR1
0.925 0.080 6 151653287 upstream gene variant C/T snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2011 2016
dbSNP: rs10510102
rs10510102
ATE1
0.925 0.080 10 121865675 intron variant T/C snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2011 2019
dbSNP: rs1062577
rs1062577
ESR1
0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2016 2017
dbSNP: rs10801935
rs10801935
VTCN1
0.925 0.080 1 117179265 intron variant C/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2009 2015
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 2 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 2 2013 2017
dbSNP: rs1131691036
rs1131691036
TP53
0.851 0.080 17 7675207 frameshift variant GCA/CC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2014 2016
dbSNP: rs113211432
rs113211432
BARD1
0.882 0.080 2 214767532 frameshift variant -/TG delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2003 2006
dbSNP: rs11553473
rs11553473
UBE2I
0.882 0.080 16 1314299 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2010 2014
dbSNP: rs1237722021
rs1237722021
TP53
0.925 0.080 17 7676194 missense variant C/A snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2008 2016
dbSNP: rs1242405057
rs1242405057
GSTK1 ; LOC105375545
0.925 0.080 7 143264093 missense variant G/A snv 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2007 2010
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 2 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 2 2013 2016
dbSNP: rs1462893414
rs1462893414
ESR1
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2005 2007
dbSNP: rs1482057
rs1482057
RORA
0.925 0.080 15 60772552 intron variant A/C snv 0.80
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2014 2019
dbSNP: rs16940342
rs16940342
PALB2
0.925 0.080 16 23633265 intron variant A/C;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2008 2018
dbSNP: rs16942
rs16942
BRCA1
0.882 0.080 17 43091983 missense variant T/A;C snv 0.35 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2011 2011
dbSNP: rs17001868
rs17001868
ADSL ; SGSM3 ; LOC107985538
0.925 0.080 22 40382227 intron variant A/C snv 0.12
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2015 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 2 2007 2013
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 2 2013 2019
dbSNP: rs200595749
rs200595749
ZFYVE26
0.925 0.080 14 67766404 missense variant C/T snv 8.8E-05 9.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 2 2011 2011