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: rs104894231
rs104894231
HRAS ; LRRC56
9 0.776 0.360 11 533467 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894340
rs104894340
CDK4
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10519198
rs10519198
IREB2
2 0.925 0.080 15 78450412 intron variant C/A;G snv 0.700 1.000 1 2009 2009
dbSNP: rs1056562
rs1056562
MPZL2
1 1.000 0.040 11 118254910 3 prime UTR variant T/C snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs1057519045
rs1057519045
FGFR2
6 0.851 0.160 10 121498522 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519728
rs1057519728
MAP2K1
5 0.851 0.120 15 66435103 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519731
rs1057519731
MAP2K1
2 0.925 0.040 15 66436816 missense variant G/C snv 0.700 1.000 1 2014 2014
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: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519785
rs1057519785
ALK
2 1.000 0.040 2 29222404 missense variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519787
rs1057519787
ERBB2
2 1.000 0.040 17 39711952 missense variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519788
rs1057519788
ROS1
6 0.925 0.080 6 117317184 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519854
rs1057519854
FGFR2
7 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519856
rs1057519856
MAP2K1
2 0.925 0.040 15 66436815 missense variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519876
rs1057519876
ARAF
3 0.882 0.160 X 47566721 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G 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: rs1057519883
rs1057519883
CDKN2A
14 0.742 0.280 9 21971120 missense variant C/G;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: rs1057519895
rs1057519895
FBXW7
17 0.724 0.240 4 152328232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519901
rs1057519901
FGFR2
5 0.925 0.080 10 121498525 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519908
rs1057519908
MAP2K1
4 0.882 0.120 15 66435105 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519909
rs1057519909
MAP2K1
7 0.790 0.240 15 66435116 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519918
rs1057519918
MYC ; CASC11
5 0.851 0.200 8 127738390 missense variant C/T snv 0.700 1.000 1 2016 2016