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: rs371769427
rs371769427
U2AF1
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519946
rs1057519946
PPP2R1A
18 0.732 0.280 19 52212729 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519947
rs1057519947
PPP2R1A
9 0.790 0.160 19 52212730 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs786205228
rs786205228
PPP2R1A
6 0.827 0.080 19 52212718 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
10 0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519862
rs1057519862
ERBB2
5 0.851 0.160 17 39723405 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519890
rs1057519890
ERBB2
8 0.807 0.200 17 39723966 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519968
rs1057519968
SPOP ; LOC107984999
2 0.925 0.120 17 49619070 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519969
rs1057519969
SPOP ; LOC107984999
2 0.925 0.120 17 49619069 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519970
rs1057519970
SPOP ; LOC107984999
2 0.925 0.120 17 49619068 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519977
rs1057519977
TP53
13 0.763 0.360 17 7675189 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
TP53
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
TP53
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519989
rs1057519989
TP53
17 0.732 0.240 17 7674233 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519991
rs1057519991
TP53
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
TP53
12 0.763 0.160 17 7674247 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
TP53
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520007
rs1057520007
TP53
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
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 1 2016 2016
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121913469
rs121913469
ERBB2
11 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.700 1.000 1 2016 2016