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: rs2043556
rs2043556
PRKG1 ; MIR605
17 0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 0.010 1.000 1 2020 2020
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs587780728
rs587780728
TP53
1 1.000 0.120 17 7676224 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs730882028
rs730882028
TP53
3 1.000 0.120 17 7670709 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs766786605
rs766786605
TP53
2 1.000 0.120 17 7670643 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs397516434
rs397516434
TP53
3 1.000 0.120 17 7670669 missense variant G/A;T snv 0.700 1.000 2 2016 2016
dbSNP: rs531398630
rs531398630
CHEK2
3 0.882 0.160 22 28695858 missense variant G/A snv 4.8E-04 1.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs587780074
rs587780074
TP53
3 0.925 0.200 17 7674226 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs730882001
rs730882001
TP53
3 0.925 0.200 17 7675119 stop gained G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs786202601
rs786202601
CHEK2
3 1.000 0.120 22 28694059 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1555526750
rs1555526750
TP53
1 1.000 0.120 17 7676213 frameshift variant TT/- del 0.700 1.000 1 2015 2015
dbSNP: rs267605076
rs267605076
TP53
6 0.851 0.160 17 7674859 missense variant C/A;T snv 4.0E-06 0.700 1.000 2 2014 2017
dbSNP: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2014 2014
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2014 2014
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs372043866
rs372043866
ERBB2
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs1555525429
rs1555525429
TP53
2 0.925 0.200 17 7674180 splice donor variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs11575996
rs11575996
TP53
2 1.000 0.120 17 7673535 missense variant C/A;T snv 0.700 1.000 2 2012 2018
dbSNP: rs587780072
rs587780072
TP53
3 0.882 0.240 17 7674927 missense variant G/A;C snv 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 1.000 2 2011 2016
dbSNP: rs1196220479
rs1196220479
YAP1
4 0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs866380588
rs866380588
TP53
1 1.000 0.120 17 7674957 stop gained G/A snv 0.700 1.000 6 2010 2016
dbSNP: rs1131691026
rs1131691026
TP53
3 0.925 0.160 17 7675174 stop gained C/T snv 0.700 1.000 5 2010 2016
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.040 1.000 4 2010 2016