Source: UNIPROT ×
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: rs113488022
rs113488022
BRAF
1 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.900 0.975 10 2004 2020
dbSNP: rs121913529
rs121913529
KRAS
3 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.800 0.923 0 1999 2020
dbSNP: rs121913279
rs121913279
PIK3CA
7 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.820 1.000 2 2005 2016
dbSNP: rs104886003
rs104886003
PIK3CA
4 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.800 1.000 2 2005 2005
dbSNP: rs121913273
rs121913273
PIK3CA
5 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 0
dbSNP: rs121913499
rs121913499
IDH1
2 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 0 2014 2014
dbSNP: rs121913364
rs121913364
BRAF
2 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.800 1.000 14 2002 2015
dbSNP: rs121913240
rs121913240
KRAS
1 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.710 1.000 0 2017 2017
dbSNP: rs121913400
rs121913400
CTNNB1
4 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.800 1.000 10 2006 2015
dbSNP: rs1057519925
rs1057519925
PIK3CA
1 0.683 0.560 3 179210291 missense variant G/A;C snv 0.700 0
dbSNP: rs121434595
rs121434595
NRAS
2 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.800 0
dbSNP: rs1057519895
rs1057519895
FBXW7
1 0.724 0.240 4 152328232 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121913283
rs121913283
PIK3CA
2 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs377767347
rs377767347
SMAD4
1 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 0
dbSNP: rs121913272
rs121913272
PIK3CA
3 0.752 0.400 3 179210192 missense variant T/C;G snv 0.700 1.000 2 2005 2005
dbSNP: rs121913348
rs121913348
BRAF
1 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.800 1.000 4 2002 2014
dbSNP: rs59912467
rs59912467
STK11
1 0.790 0.120 19 1223126 missense variant C/G;T snv 5.2E-03; 4.1E-06 0.700 0
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
3 0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03 0.710 1.000 12 1999 2012
dbSNP: rs63750217
rs63750217
MLH1
2 0.807 0.240 3 37048955 missense variant G/A;C snv 0.700 1.000 11 1996 2008
dbSNP: rs772110575
rs772110575
PIK3CA
1 0.807 0.160 3 179198938 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 2005 2005
dbSNP: rs121913527
rs121913527
KRAS
1 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.700 0
dbSNP: rs770248150
rs770248150
KRAS
1 0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs63750741
rs63750741
MSH6 ; FBXO11
2 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 12 1999 2012
dbSNP: rs28930073
rs28930073
MLH1
1 0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04 0.720 1.000 11 1996 2008
dbSNP: rs63750949
rs63750949
MSH6 ; FBXO11
1 0.827 0.080 2 47806213 missense variant C/A;T snv 0.700 0