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: rs1040124120
rs1040124120
ZHX2
2 1.000 0.160 8 122953350 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 3 2006 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 2007 2007
dbSNP: rs104894359
rs104894359
KRAS
5 0.851 0.200 12 25227346 missense variant C/G;T snv 0.700 1.000 3 2006 2011
dbSNP: rs104894360
rs104894360
KRAS
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.720 1.000 7 2006 2008
dbSNP: rs104894361
rs104894361
KRAS
3 0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs104894362
rs104894362
KRAS
3 0.882 0.200 12 25209894 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs104894364
rs104894364
KRAS
2 0.925 0.160 12 25227351 missense variant G/A snv 0.710 1.000 8 2006 2013
dbSNP: rs104894365
rs104894365
KRAS
9 0.827 0.320 12 25245345 missense variant C/T snv 0.720 1.000 9 2006 2018
dbSNP: rs104894366
rs104894366
KRAS
9 0.776 0.400 12 25245284 missense variant G/A;C snv 0.710 1.000 5 1993 2011
dbSNP: rs1057517917
rs1057517917
PTPN11
2 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.020 0.500 2 2006 2012
dbSNP: rs1057519819
rs1057519819
MAP2K1
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1114167651
rs1114167651
PTEN
2 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs113461014
rs113461014
STAT5B
2 0.925 0.200 17 42232124 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121434594
rs121434594
RAF1
5 0.827 0.160 3 12604189 missense variant G/A;C;T snv 0.700 1.000 6 2007 2013
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 4 2004 2009
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 5 2000 2010
dbSNP: rs121913348
rs121913348
BRAF
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 4 2003 2008
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.700 1.000 4 2007 2016
dbSNP: rs121913369
rs121913369
BRAF
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2004 2012
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.710 1.000 18 2002 2009
dbSNP: rs121918454
rs121918454
PTPN11
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.710 1.000 8 2001 2014
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.710 1.000 9 2002 2017