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: rs1057520039
rs1057520039
STK11
2 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs121909224
rs121909224
PTEN
35 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121913357
rs121913357
BRAF
11 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
26 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
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: 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: 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: 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: rs1057519791
rs1057519791
FGFR2
1 1.000 0.080 10 121518810 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
11 0.742 0.280 9 21971120 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519889
rs1057519889
EP300
6 0.807 0.200 22 41169525 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519895
rs1057519895
FBXW7
14 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: rs1057519912
rs1057519912
MED12
5 0.776 0.200 X 71129408 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
7 0.790 0.160 2 177234232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
7 0.763 0.240 2 177234231 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
7 0.790 0.200 2 177234082 missense variant C/G;T snv 0.700 1.000 1 2016 2016