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: rs11075884
rs11075884
1 1.000 0.080 16 71321332 intergenic variant A/C;G snv 0.010 1.000 1 2013 2013
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: rs203462
rs203462
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
6 0.807 0.200 17 19909228 missense variant TG/CA mnv 0.010 1.000 1 2007 2007
dbSNP: rs34434221
rs34434221
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: rs2241268
rs2241268
1 1.000 0.080 15 85735078 missense variant G/A snv 0.22 0.19 0.010 1.000 1 2006 2006
dbSNP: rs4843075
rs4843075
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: rs6960867
rs6960867
3 0.882 0.080 7 92083384 missense variant A/G snv 0.36 0.34 0.010 1.000 1 2008 2008
dbSNP: rs6964587
rs6964587
4 0.851 0.120 7 92001306 missense variant G/T snv 0.38 0.42 0.010 1.000 1 2008 2008
dbSNP: rs758898660
rs758898660
1 1.000 0.080 5 73892052 missense variant G/A snv 4.4E-06 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 0.040 1.000 4 2006 2006
dbSNP: rs755100942
rs755100942
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.040 1.000 4 2006 2006
dbSNP: rs3803185
rs3803185
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.030 1.000 3 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: 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
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: rs28997576
rs28997576
11 0.776 0.160 2 214752454 missense variant C/G;T snv 1.5E-02 0.020 1.000 2 2006 2012
dbSNP: rs113211432
rs113211432
3 0.882 0.080 2 214767532 frameshift variant -/TG delins 0.010 1.000 1 2006 2006
dbSNP: rs2070094
rs2070094
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
3 0.882 0.080 2 214767531 missense variant CA/AG;TG mnv 0.010 1.000 1 2006 2006
dbSNP: rs886039958
rs886039958
3 0.882 0.080 17 43093956 frameshift variant A/-;AA delins 0.020 1.000 2 2006 2007
dbSNP: rs1060915
rs1060915
1 1.000 0.080 17 43082453 synonymous variant A/G snv 0.35 0.30 0.010 1.000 1 2014 2014
dbSNP: rs12516
rs12516
4 0.851 0.160 17 43044391 3 prime UTR variant G/A snv 0.34 0.31 0.010 1.000 1 2014 2014
dbSNP: rs16940
rs16940
5 0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 0.010 1.000 1 2014 2014
dbSNP: rs397509062
rs397509062
1 1.000 0.080 17 43104223 missense variant A/G snv 0.010 1.000 1 2004 2004