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: rs63750258
rs63750258
3 0.851 0.200 2 47800966 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs9350
rs9350
16 0.742 0.240 1 241885372 missense variant C/T snv 0.21 0.19 0.010 1.000 1 2005 2005
dbSNP: rs1131691029
rs1131691029
4 0.827 0.160 17 7673794 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1230416942
rs1230416942
3 0.925 0.080 8 33498547 missense variant G/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1800056
rs1800056
ATM
6 0.882 0.120 11 108267276 missense variant T/C snv 8.7E-03 8.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs1800057
rs1800057
ATM
8 0.776 0.200 11 108272729 missense variant C/A;G snv 1.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 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: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs397517134
rs397517134
1 1.000 0.080 7 55191861 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs537292284
rs537292284
1 1.000 0.080 10 102133102 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs6964587
rs6964587
4 0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42 0.010 1.000 1 2006 2006
dbSNP: rs745950347
rs745950347
3 0.882 0.120 9 87640345 missense variant T/C snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs765388668
rs765388668
3 1.000 0.080 7 92002488 missense variant T/A snv 8.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs766170770
rs766170770
2 0.925 0.080 11 69641374 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs770635391
rs770635391
1 1.000 0.080 19 10271190 missense variant C/G;T snv 8.1E-06; 4.1E-06 0.010 1.000 1 2006 2006
dbSNP: rs773919809
rs773919809
13 0.763 0.200 10 129766957 missense variant C/T snv 2.0E-05 0.010 1.000 1 2006 2006
dbSNP: rs867538330
rs867538330
2 0.925 0.080 5 102458457 synonymous variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs941759532
rs941759532
11 0.763 0.240 16 13932175 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1418586322
rs1418586322
6 0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06 0.020 1.000 2 2004 2007
dbSNP: rs373129709
rs373129709
7 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 0.020 1.000 2 2006 2007
dbSNP: rs486907
rs486907
31 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.020 1.000 2 2005 2007
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2007
dbSNP: rs1057911
rs1057911
1 1.000 0.080 10 94988980 synonymous variant A/T snv 6.3E-02 4.9E-02 0.010 1.000 1 2007 2007
dbSNP: rs1172901314
rs1172901314
4 0.851 0.160 10 17833714 missense variant C/T snv 7.0E-06 0.010 1.000 1 2007 2007