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: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519859
rs1057519859
ALK
2 1.000 0.120 2 29222392 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs113994089
rs113994089
ALK
4 0.925 0.120 2 29220776 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs113994091
rs113994091
ALK
4 0.882 0.160 2 29222407 missense variant G/A;C snv 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1226137439
rs1226137439
PIK3CG
1 1.000 0.120 7 106868830 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs201227909
rs201227909
AKT1
2 0.925 0.160 14 104770839 synonymous variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs763830096
rs763830096
EGFR
1 1.000 0.120 7 55157724 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs863224686
rs863224686
TP53
1 1.000 0.120 17 7673716 missense variant C/G snv 0.010 1.000 1 2019 2019