Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs202003805
PRSS1
0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 6
rs876658923
EPM2AIP1 ; MLH1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 3
rs1383461329
KMT5A
1.000 0.120 12 123389469 missense variant C/T snv 1.4E-05 2
rs12051350
SMG1
1.000 0.120 16 18896946 missense variant C/T snv 3.7E-02 1.5E-02 1
rs1361241029
PBK
1.000 0.120 8 27828154 start lost T/C snv 2.1E-05 1
rs1370376642
RNF157-AS1 ; FOXJ1
1.000 0.120 17 76140095 missense variant G/A snv 1
rs138280963
PRKACG
1.000 0.120 9 69013990 missense variant C/T snv 4.8E-05 2.0E-04 1
rs1435047610
CDK16
1.000 0.120 X 47223642 missense variant G/A snv 9.5E-06 1
rs764152905
SMG1
1.000 0.120 16 18854890 missense variant T/A;C snv 8.0E-06; 2.4E-05 1
rs770380303
MAP3K14
1.000 0.120 17 45289251 missense variant C/G snv 8.0E-06 1
rs1057519738
MIR4728 ; ERBB2
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 10
rs1057519943
POLE
0.790 0.160 12 132676598 missense variant G/C;T snv 10
rs587782703
SDHB
0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 8
rs1057519962
SMAD4
0.827 0.160 18 51067035 missense variant G/A;T snv 6
rs1057519919
MYCNOS ; MYCN
0.851 0.160 2 15942195 missense variant C/T snv 5
rs1057519944
POLE
0.882 0.160 12 132676599 missense variant G/A snv 5
rs750040814
XPC
0.827 0.160 3 14158639 missense variant C/T snv 1.6E-05 5.6E-05 5
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv 4
rs1057519912
MED12
0.776 0.200 X 71129408 missense variant C/G;T snv 11
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv 11
rs1057519937
PIK3CA
0.776 0.200 3 179234285 missense variant T/C snv 11
rs587782177
TP53
0.763 0.200 17 7674887 missense variant C/A;G;T snv 11
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del 7
rs1057519958
RXRA
0.851 0.200 9 134436505 missense variant C/A;T snv 4