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: rs886039958
rs886039958
BRCA1
3 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 0.020 1.000 2 2006 2007
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs113211432
rs113211432
BARD1
3 0.882 0.080 2 214767532 frameshift variant -/TG delins 0.010 1.000 1 2006 2006
dbSNP: rs1186364060
rs1186364060
HFM1
1 1.000 0.080 1 91353084 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs121917739
rs121917739
RAD51
4 0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs12255372
rs12255372
TCF7L2
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs13010627
rs13010627
CASP10
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2006 2006
dbSNP: rs147120792
rs147120792
ARL11
6 0.851 0.200 13 49630839 missense variant C/A;T snv 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2006 2006
dbSNP: rs2070094
rs2070094
BARD1
3 0.882 0.080 2 214767531 missense variant C/A;T snv 1.6E-05; 0.37 0.010 1.000 1 2006 2006
dbSNP: rs2241268
rs2241268
AKAP13
1 1.000 0.080 15 85735078 missense variant G/A snv 0.22 0.19 0.010 1.000 1 2006 2006
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs3736265
rs3736265
PPARGC1A
7 0.790 0.360 4 23813084 missense variant G/A;T snv 8.6E-02; 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs386654966
rs386654966
BARD1
3 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 0.010 1.000 1 2006 2006
dbSNP: rs4843075
rs4843075
AKAP13
1 1.000 0.080 15 85581324 missense variant G/A;C snv 0.61; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs530464947
rs530464947
BRCA1
1 1.000 0.080 17 43092137 missense variant T/C snv 1.6E-05 4.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs56343424
rs56343424
CYP1A1
1 1.000 0.080 15 74720496 missense variant C/A;T snv 2.1E-03; 3.3E-05 0.010 1.000 1 2006 2006
dbSNP: rs751942421
rs751942421
RASSF7 ; LMNTD2
1 1.000 0.080 11 562702 missense variant C/T snv 1.4E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs753904217
rs753904217
GSTM1 ; GSTM2
1 1.000 0.080 1 109690557 missense variant G/A snv 1.9E-04 6.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs758898660
rs758898660
ARHGEF28
1 1.000 0.080 5 73892052 missense variant G/A snv 4.4E-06 0.010 1.000 1 2006 2006
dbSNP: rs770140945
rs770140945
CYP1A1
4 0.882 0.200 15 74720665 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs80357125
rs80357125
BRCA1
3 0.882 0.080 17 43063940 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1351211430
rs1351211430
ERCC2
4 0.851 0.120 19 45369118 synonymous variant G/A;C snv 8.0E-06 0.010 1.000 1 2007 2007