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: 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
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2010 2016
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 1.000 3 2010 2016
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: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.820 1.000 34 1990 2015
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.800 1.000 15 1991 2015
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.820 1.000 38 1990 2018
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.820 1.000 28 1990 2017
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: rs121912656
rs121912656
TP53
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.800 1.000 22 1990 2014
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: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.800 1.000 23 1988 2014
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.020 1.000 2 2009 2018
dbSNP: rs138729528
rs138729528
TP53
25 0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 0.800 1.000 29 1990 2015
dbSNP: rs28934874
rs28934874
TP53
21 0.695 0.480 17 7675161 missense variant G/A;C;T snv 0.800 1.000 19 1990 2014
dbSNP: rs121912657
rs121912657
TP53
24 0.683 0.480 17 7673806 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 18 1990 2017
dbSNP: rs28934573
rs28934573
TP53
28 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 18 1990 2016
dbSNP: rs764146326
rs764146326
TP53
25 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 18 1990 2015
dbSNP: rs17849781
rs17849781
TP53
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.700 1.000 11 1990 2014
dbSNP: rs483352697
rs483352697
TP53
21 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs587781525
rs587781525
TP53
22 0.689 0.480 17 7673778 missense variant T/A;C;G snv 0.700 1.000 10 1999 2015
dbSNP: rs28934574
rs28934574
TP53
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.800 1.000 26 1990 2017
dbSNP: rs587781288
rs587781288
TP53
16 0.732 0.440 17 7675190 missense variant C/A;T snv 0.800 1.000 20 1990 2014