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: rs1131691039
rs1131691039
TP53
5 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1131691043
rs1131691043
TP53
2 1.000 0.120 17 7675098 missense variant C/A snv 0.700 0
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: rs11540654
rs11540654
TP53
4 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 1.000 11 1997 2014
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: rs11575997
rs11575997
TP53
2 0.925 0.200 17 7673534 splice donor variant C/A;G;T snv 0.700 1.000 3 2000 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: 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: rs121908707
rs121908707
CHEK2
3 0.925 0.160 22 28695709 splice donor variant C/A;G;T snv 0.700 0
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: rs121912652
rs121912652
TP53
4 0.882 0.200 17 7674191 stop gained C/A;T snv 0.800 1.000 14 1990 2014
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: 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: 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: rs121912659
rs121912659
TP53
4 0.882 0.160 17 7673554 missense variant C/A;T snv 4.0E-06 7.0E-06 0.700 1.000 11 1990 2014
dbSNP: rs121912662
rs121912662
TP53
2 0.925 0.120 17 7670678 missense variant A/G snv 0.800 1.000 21 1990 2017
dbSNP: rs121912663
rs121912663
TP53
2 0.925 0.120 17 7673745 missense variant T/A;C snv 0.710 1.000 19 1990 2017
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.900 0.977 44 1990 2020
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.820 1.000 43 1990 2018
dbSNP: rs121912667
rs121912667
TP53
4 0.851 0.200 17 7673766 missense variant T/A snv 0.700 1.000 3 2003 2015
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: rs121913344
rs121913344
TP53
5 0.925 0.200 17 7673704 stop gained G/A;T snv 0.700 1.000 4 1997 2017
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