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: rs1057519893
rs1057519893
ERBB3
9 0.790 0.160 12 56085070 missense variant G/A;T 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: rs1057519896
rs1057519896
FBXW7
12 0.742 0.320 4 152326136 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519898
rs1057519898
FGFR1
5 0.851 0.120 8 38417333 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
5 0.851 0.120 8 38417879 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519900
rs1057519900
FGFR2
3 0.882 0.120 10 121515259 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519907
rs1057519907
KIT
2 0.925 0.120 4 54728057 missense variant A/C 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: rs1057519910
rs1057519910
MAP2K2
4 0.851 0.160 19 4117551 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519912
rs1057519912
MED12
11 0.776 0.200 X 71129408 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519915
rs1057519915
MTOR
5 0.851 0.160 1 11109318 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519916
rs1057519916
MTOR
4 0.882 0.160 1 11109320 missense variant T/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: rs1057519933
rs1057519933
PIK3CA
11 0.790 0.240 3 179199156 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519934
rs1057519934
PIK3CA
11 0.790 0.240 3 179199158 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519935
rs1057519935
PIK3CA
11 0.790 0.240 3 179199157 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519936
rs1057519936
PIK3CA
11 0.776 0.200 3 179234284 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
PIK3CA
11 0.776 0.200 3 179234285 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519938
rs1057519938
PIK3CA
10 0.776 0.160 3 179203764 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519939
rs1057519939
PIK3CA
10 0.776 0.160 3 179203763 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519940
rs1057519940
PIK3CA
13 0.752 0.200 3 179218308 missense variant G/T snv 0.700 1.000 1 2016 2016