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: rs1057520012
rs1057520012
EPHA5
1 1.000 0.040 4 65404419 missense variant C/T snv 0.800 1.000 1 2005 2005
dbSNP: rs113488022
rs113488022
BRAF
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 1 2008 2019
dbSNP: rs121913530
rs121913530
KRAS
11 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.730 1.000 2 2014 2019
dbSNP: rs371769427
rs371769427
U2AF1
9 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.730 0.750 1 2016 2019
dbSNP: rs121913338
rs121913338
BRAF
12 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.720 1.000 1 2016 2018
dbSNP: rs28929495
rs28929495
EGFR
3 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.720 1.000 1 2016 2018
dbSNP: rs1057519816
rs1057519816
ERBB2
10 0.763 0.200 17 39711955 missense variant C/A;T snv 0.710 1.000 1 2016 2018
dbSNP: rs1057520005
rs1057520005
TP53
11 0.742 0.360 17 7673800 missense variant C/A;G snv 0.710 1.000 1 2015 2016
dbSNP: rs121912651
rs121912651
TP53
37 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 1 2016 2017
dbSNP: rs121913279
rs121913279
PIK3CA
45 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2016 2017
dbSNP: rs121913444
rs121913444
EGFR
3 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.710 1.000 1 2016 2020
dbSNP: rs1057519784
rs1057519784
ALK
1 0.827 0.080 2 29220765 missense variant G/T snv 0.700 1.000 3 2012 2014
dbSNP: rs121913355
rs121913355
BRAF
32 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 3 2012 2016
dbSNP: rs1057519781
rs1057519781
ALK
1 0.807 0.160 2 29209816 missense variant C/G snv 0.700 1.000 2 2012 2014
dbSNP: rs1057519782
rs1057519782
ALK
1 1.000 0.040 2 29220734 missense variant G/T snv 0.700 1.000 2 2012 2014
dbSNP: rs1057519786
rs1057519786
ARAF
3 0.882 0.160 X 47566722 missense variant C/G;T snv 0.700 1.000 2 2014 2016
dbSNP: rs121913229
rs121913229
EGFR
2 0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06 0.700 1.000 2 2005 2014
dbSNP: rs121913331
rs121913331
APC
5 0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 0.700 1.000 2 2008 2014
dbSNP: rs121913403
rs121913403
CTNNB1
13 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 2 2014 2016
dbSNP: rs863225281
rs863225281
ALK
3 0.776 0.200 2 29220829 missense variant G/C;T snv 0.700 1.000 2 2012 2014
dbSNP: rs869025608
rs869025608
MAP2K1
9 0.763 0.400 15 66435117 missense variant G/C;T snv 0.700 1.000 2 2014 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: 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