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: rs369203092
rs369203092
ATM
1 1.000 0.120 11 108247117 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs371713984
rs371713984
ATM
1 1.000 0.120 11 108247110 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs567060474
rs567060474
1 1.000 0.120 11 108326070 missense variant G/A;T snv 1.0E-04 0.700 0
dbSNP: rs587781894
rs587781894
4 0.882 0.360 11 108365360 missense variant G/A;C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs876660821
rs876660821
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.010 < 0.001 1 1994 1994
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 2 1997 2016
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 1997 1997
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 1997 1997
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 1997 1997
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2003 2003
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2019
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.020 0.500 2 2006 2008
dbSNP: rs1373425060
rs1373425060
AK3
2 0.925 0.120 9 4719290 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs146850453
rs146850453
1 1.000 0.120 13 49630937 missense variant G/A;C snv 3.7E-04; 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs147120792
rs147120792
6 0.851 0.200 13 49630839 missense variant C/A;T snv 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs20576
rs20576
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2006 2006
dbSNP: rs34301344
rs34301344
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs3803185
rs3803185
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2006 2006
dbSNP: rs755100942
rs755100942
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.010 1.000 1 2006 2006