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: rs121913530
rs121913530
KRAS
11 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057520039
rs1057520039
STK11
2 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs730881972
rs730881972
STK11
2 1.000 0.080 19 1220395 missense variant G/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs764449808
rs764449808
STK11
1 1.000 0.080 19 1218494 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2007 2007
dbSNP: rs150036236
rs150036236
EGFR
2 0.925 0.080 7 55191741 missense variant G/A snv 4.8E-05 3.5E-05 0.700 1.000 1 2010 2010
dbSNP: rs34192549
rs34192549
EPHA2
1 1.000 0.080 1 16137994 missense variant C/G;T snv 2.5E-02 0.700 1.000 1 2010 2010
dbSNP: rs1057519789
rs1057519789
DDR2
1 1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1057519790
rs1057519790
DDR2
1 1.000 0.080 1 162778617 missense variant G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs144594252
rs144594252
DDR2
1 0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 0.700 1.000 1 2011 2011
dbSNP: rs376303676
rs376303676
DDR2
1 1.000 0.080 1 162759881 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs578015216
rs578015216
DDR2
1 1.000 0.080 1 162759840 missense variant T/C;G snv 2.8E-05 0.700 1.000 1 2011 2011
dbSNP: rs121913428
rs121913428
EGFR
4 0.827 0.120 7 55174015 missense variant G/A;C snv 0.700 1.000 2 2012 2013
dbSNP: rs121913465
rs121913465
EGFR ; EGFR-AS1
3 0.763 0.160 7 55181312 missense variant G/T snv 0.700 1.000 2 2012 2013
dbSNP: rs397517097
rs397517097
EGFR
2 0.851 0.080 7 55174777 missense variant T/C snv 0.700 1.000 2 2012 2013
dbSNP: rs1057519791
rs1057519791
FGFR2
1 1.000 0.080 10 121518810 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs121918499
rs121918499
FGFR2
2 0.925 0.160 10 121520048 missense variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs121913444
rs121913444
EGFR
3 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.700 1.000 3 2012 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: rs104886003
rs104886003
PIK3CA
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
4 0.790 0.160 9 21971019 missense variant G/A;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: 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: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016