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: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2007 2016
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2012 2014
dbSNP: rs1037189404
rs1037189404
MUC1
8 0.776 0.280 1 155187519 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs746284240
rs746284240
MDM2
11 0.763 0.240 12 68809243 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs762581936
rs762581936
MUC4
5 0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs766333007
rs766333007
MUC1
8 0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs868435819
rs868435819
TCF4
2 1.000 0.040 18 55321704 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs980303898
rs980303898
GCG ; LOC101929532
4 0.851 0.120 2 162147479 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2012 2012