Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519737
rs1057519737
ERBB2 ; MIR4728
1 17 39724750 inframe insertion -/GCTCCCCAG delins 0.700 1.000 1 2013 2013
dbSNP: rs397516979
rs397516979
ERBB2 ; MIR4728
2 1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins 0.700 1.000 1 2014 2014
dbSNP: rs1555444543
rs1555444543
HERC2
1 15 28260816 inframe deletion GTCCAGTCCTGGCAA/- del 0.700 1.000 2 2006 2013
dbSNP: rs1131692241
rs1131692241
ERBB2
1 17 39723966 inframe deletion TGAGGGAAAACACAT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs904571820
rs904571820
ESR1
5 0.851 0.160 6 151842664 start lost A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1555280073
rs1555280073
BRCA2
1 13 32316454 start lost TAAAAATGCCTATTGG/- delins 0.700 0
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
5 0.882 0.200 17 43124096 start lost T/C snv 0.700 0
dbSNP: rs80357973
rs80357973
BRCA1
4 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 13 1976 2016
dbSNP: rs1057519996
rs1057519996
TP53
19 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397508940
rs397508940
BRCA1
2 1.000 17 43104958 splice acceptor variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs80358146
rs80358146
BRCA1
2 1.000 17 43104957 splice acceptor variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs866775781
rs866775781
TP53
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1800747
rs1800747
BRCA1
5 0.882 0.200 17 43063952 splice acceptor variant C/A;G;T snv 0.700 0
dbSNP: rs121913289
rs121913289
PTEN
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 4 1999 2010
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
dbSNP: rs80357772
rs80357772
BRCA1
4 0.925 0.200 17 43094549 frameshift variant AT/- del 0.700 1.000 2 2004 2016
dbSNP: rs1057517590
rs1057517590
BRCA1
2 1.000 17 43063370 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs121913292
rs121913292
PTEN
2 1.000 0.080 10 87933148 frameshift variant G/- del 0.010 1.000 1 2016 2016
dbSNP: rs1555284442
rs1555284442
BRCA2
1 13 32340234 frameshift variant G/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555913881
rs1555913881
CHEK2
1 22 28695841 frameshift variant T/- del 0.700 1.000 1 2004 2004
dbSNP: rs276174819
rs276174819
BRCA2
3 0.925 0.200 13 32336524 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs397507643
rs397507643
BRCA2
2 1.000 13 32337181 frameshift variant TTAA/- delins 0.700 1.000 1 2004 2004
dbSNP: rs397507710
rs397507710
BRCA2
2 1.000 13 32338504 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs397508979
rs397508979
BRCA1
1 17 43092974 frameshift variant -/GAAAAGTGAA ins 0.700 1.000 1 2016 2016
dbSNP: rs483353111
rs483353111
BRCA2
3 0.925 0.200 13 32336949 frameshift variant A/- delins 0.700 1.000 1 2004 2004