Source: CLINVAR ×
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: rs1057519784
rs1057519784
ALK
1 0.827 0.080 2 29220765 missense variant G/T snv 0.700 1.000 3 2012 2014
dbSNP: rs1057519781
rs1057519781
ALK
1 0.807 0.160 2 29209816 missense variant C/G snv 0.700 1.000 2 2012 2014
dbSNP: rs1057519782
rs1057519782
ALK
1 1.000 0.040 2 29220734 missense variant G/T snv 0.700 1.000 2 2012 2014
dbSNP: rs1057519786
rs1057519786
ARAF
3 0.882 0.160 X 47566722 missense variant C/G;T snv 0.700 1.000 2 2014 2016
dbSNP: rs121913403
rs121913403
CTNNB1
13 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 2 2014 2016
dbSNP: rs121913530
rs121913530
KRAS
11 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.730 1.000 2 2014 2019
dbSNP: rs863225281
rs863225281
ALK
3 0.776 0.200 2 29220829 missense variant G/C;T snv 0.700 1.000 2 2012 2014
dbSNP: rs869025608
rs869025608
MAP2K1
9 0.763 0.400 15 66435117 missense variant G/C;T snv 0.700 1.000 2 2014 2016
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
23 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
36 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894231
rs104894231
HRAS ; LRRC56
7 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: 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
17 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519783
rs1057519783
ALK
1 0.851 0.080 2 29220747 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs1057519785
rs1057519785
ALK
1 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
1 0.925 0.080 6 117317184 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519816
rs1057519816
ERBB2
10 0.763 0.200 17 39711955 missense variant C/A;T snv 0.710 1.000 1 2016 2018
dbSNP: rs1057519854
rs1057519854
FGFR2
5 0.882 0.080 10 121488063 missense variant A/T snv 0.700 1.000 1 2016 2016