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: rs756522395
rs756522395
ATM
1 1.000 0.080 11 108257484 missense variant C/G;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs796096871
rs796096871
AKAP10
6 0.807 0.200 17 19909228 missense variant TG/CA mnv 0.010 1.000 1 2007 2007
dbSNP: rs80357007
rs80357007
BRCA1
1 1.000 0.080 17 43051107 missense variant C/A;T snv 0.010 1.000 1 2017 2017
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: rs80358505
rs80358505
BRCA2
1 1.000 0.080 13 32319249 missense variant A/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs876660702
rs876660702
BRCA1
4 0.851 0.160 17 43063333 splice region variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs996659898
rs996659898
CTCFL
1 1.000 0.080 20 57500314 missense variant G/C snv 0.010 1.000 1 2004 2004
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: 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: rs143282828
rs143282828
UIMC1
1 1.000 0.080 5 176968697 missense variant A/G snv 7.3E-04 7.3E-04 0.010 1.000 1 2009 2009
dbSNP: rs41293475
rs41293475
BRCA2
3 0.882 0.080 13 32332629 missense variant C/G;T snv 7.6E-04 0.010 1.000 1 2005 2005
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: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs28363284
rs28363284
RAD51D ; RAD51L3-RFFL
5 0.882 0.080 17 35103294 missense variant T/C snv 9.7E-03 1.1E-02 0.020 0.500 2 2004 2009
dbSNP: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.040 1.000 4 2006 2006
dbSNP: rs28997576
rs28997576
BARD1
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.020 1.000 2 2006 2012
dbSNP: rs45551636
rs45551636
PALB2
1 1.000 0.080 16 23622972 missense variant C/G;T snv 1.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs34434221
rs34434221
AKAP13
3 0.882 0.080 15 85579644 missense variant A/C snv 2.2E-02 2.2E-02 0.020 1.000 2 2006 2007
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: 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: 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: 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: rs152451
rs152451
PALB2
1 1.000 0.080 16 23634870 missense variant T/A;C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs1136201
rs1136201
ERBB2
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.010 1.000 1 2005 2005