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 0.020 1.000 2 2010 2013
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.020 1.000 2 1997 2011
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2006 2006
dbSNP: rs1057519793
rs1057519793
FGFR4
3 0.882 0.040 5 177095551 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1196220479
rs1196220479
YAP1
4 0.851 0.120 11 102223635 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 1.000 1 2000 2000
dbSNP: rs2279343
rs2279343
CYP2B6
8 0.776 0.200 19 41009358 missense variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs3211371
rs3211371
CYP2B6
6 0.827 0.080 19 41016810 missense variant C/A;T snv 1.2E-04; 8.8E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs766121173
rs766121173
FGFR4
3 0.882 0.040 5 177095625 missense variant G/A snv 1.1E-04 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs774829510
rs774829510
CDKN2A
3 0.882 0.040 9 21971046 missense variant C/A;T snv 0.010 1.000 1 1999 1999