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: rs1057519847
rs1057519847
EGFR
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2009 2009
dbSNP: rs1057519848
rs1057519848
EGFR
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2009 2009
dbSNP: rs1194653703
rs1194653703
PTK2
2 0.925 0.040 8 140659663 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121434568
rs121434568
EGFR
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1302295057
rs1302295057
EGFR
2 0.925 0.040 7 55201284 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1395763398
rs1395763398
MET
2 0.925 0.040 7 116795891 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2009 2009
dbSNP: rs762515280
rs762515280
PTK2
2 0.925 0.040 8 140659497 missense variant A/C;G snv 1.2E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7694379
rs7694379 		3 1.000 4 87265357 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019