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: 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: 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: rs1210653597
rs1210653597
CDKN2A
2 0.925 0.120 9 21968756 missense variant T/C snv 0.010 1.000 1 2010 2010
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: 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: rs138556334
rs138556334
GLI2
1 1.000 0.120 2 120968809 missense variant C/T snv 3.6E-05 1.4E-05 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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: rs751857027
rs751857027
QTRT1
2 0.925 0.120 19 10707507 missense variant C/G;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2009 2009
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: 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: 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: 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: rs770374782
rs770374782
TP53
6 0.851 0.160 17 7673752 missense variant G/A;C snv 1.2E-05 4.2E-05 0.020 1.000 2 2009 2018
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: 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: rs121912653
rs121912653
TP53
2 0.925 0.120 17 7674208 missense variant A/G snv 0.700 1.000 18 1990 2017
dbSNP: rs121912655
rs121912655
TP53
15 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.700 1.000 18 1989 2017
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