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: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2007 2007
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: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs566164
rs566164
CCDC162P
2 1.000 0.080 6 109185258 intron variant A/G snv 0.73 0.010 1.000 1 2013 2013
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: rs12255372
rs12255372
TCF7L2
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2420946
rs2420946
FGFR2
4 0.851 0.160 10 121591810 intron variant T/C snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs4645959
rs4645959
MYC ; CASC11
3 0.882 0.080 8 127738294 missense variant A/C;G snv 1.6E-05; 2.3E-02 0.010 1.000 1 2005 2005
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
3 0.882 0.280 MT 13708 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs895819
rs895819
LOC284454 ; MIR23A ; MIR24-2 ; MIR27A
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.010 1.000 1 2010 2010
dbSNP: rs2046210
rs2046210 		21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2013 2013
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: 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: 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: rs203462
rs203462
AKAP10
7 0.807 0.200 17 19909228 missense variant T/C snv 0.37 0.43 0.010 1.000 1 2007 2007
dbSNP: rs796096871
rs796096871
AKAP10
6 0.807 0.200 17 19909228 missense variant TG/CA mnv 0.010 1.000 1 2007 2007
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2010 2010
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: 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: 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: 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: rs386654966
rs386654966
BARD1
3 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 0.010 1.000 1 2006 2006