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: rs104894230
rs104894230
HRAS ; LRRC56
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 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: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519886
rs1057519886
CTNNB1
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
FGFR1
6 0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519906
rs1057519906
IDH2
8 0.882 0.120 15 90088607 missense variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
7 0.790 0.200 2 177234082 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519923
rs1057519923
NFE2L2
6 0.807 0.200 2 177234081 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
6 0.807 0.200 2 177234080 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519925
rs1057519925
PIK3CA
25 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
PIK3CA
10 0.776 0.200 3 179210293 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
PIK3CA
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
PIK3CA
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519958
rs1057519958
RXRA
4 0.851 0.200 9 134436505 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519959
rs1057519959
SF3B2
4 0.882 0.200 11 66063028 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 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: rs1057519983
rs1057519983
TP53
16 0.724 0.360 17 7673797 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519985
rs1057519985
TP53
16 0.724 0.360 17 7673763 missense variant T/A;C;G 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: rs1057519992
rs1057519992
TP53
14 0.742 0.400 17 7674890 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016