Source: ALL

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: rs1801155
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs397507802
rs397507802
BRCA2
0.925 0.080 13 32326555 frameshift variant -/A delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs570278423
rs570278423
SDHB
1.000 0.080 1 17033077 missense variant C/T snv 8.0E-06 3.5E-05
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs587781299
rs587781299
ATM ; C11orf65
0.925 0.280 11 108327665 frameshift variant -/A delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs62625284
rs62625284
PALB2
1.000 0.080 16 23603592 missense variant A/G;T snv 1.7E-04; 8.0E-06
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs80359604
rs80359604
BRCA2
0.763 0.320 13 32329468 frameshift variant GT/- delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs869312772
rs869312772
PALB2
0.925 0.080 16 23635383 frameshift variant G/-;GG delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs869312782
rs869312782
TP53
1.000 0.080 17 7676167 stop gained C/A;G snv
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.700 0
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.020 0.500 2 2005 2006
dbSNP: rs1064794662
rs1064794662
BRCA1
0.925 0.080 17 43049129 frameshift variant G/- delins
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2017 2017
dbSNP: rs149726976
rs149726976
GALNT12
0.882 0.120 9 98831929 missense variant C/T snv 2.7E-04 4.5E-04
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2014 2014
dbSNP: rs1800054
rs1800054
ATM
0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2004 2004
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2003 2003
dbSNP: rs75023630
rs75023630
PALB2
1.000 0.080 16 23635054 missense variant C/A;T snv 4.8E-04
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2019 2019
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
0.882 0.200 17 43124096 start lost T/C snv
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2017 2017
dbSNP: rs863224464
rs863224464
BRCA2
0.925 0.200 13 32316461 start lost A/G snv
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2017 2017
dbSNP: rs879255477
rs879255477
BRCA1
1.000 0.080 17 43106526 start lost T/C snv
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		0.010 1.000 1 2017 2017