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: rs104894365
rs104894365
KRAS
9 0.827 0.320 12 25245345 missense variant C/T snv 0.800 1.000 11 2006 2014
dbSNP: rs104894359
rs104894359
KRAS
5 0.851 0.200 12 25227346 missense variant C/G;T snv 0.800 1.000 7 2006 2011
dbSNP: rs104894364
rs104894364
KRAS
2 0.925 0.160 12 25227351 missense variant G/A snv 0.800 1.000 7 2006 2011
dbSNP: rs104894366
rs104894366
KRAS
9 0.776 0.400 12 25245284 missense variant G/A;C snv 0.800 1.000 7 2006 2014
dbSNP: rs193929331
rs193929331
KRAS
2 0.925 0.160 12 25245372 missense variant T/C snv 0.800 1.000 6 2006 2011
dbSNP: rs727503110
rs727503110
KRAS
3 0.882 0.160 12 25245320 missense variant T/A;C snv 0.800 0
dbSNP: rs397507510
rs397507510
PTPN11
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.700 1.000 28 2002 2016
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 1.000 14 2003 2009
dbSNP: rs267607048
rs267607048
SHOC2
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 12 2009 2013
dbSNP: rs121918454
rs121918454
PTPN11
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 1.000 11 2003 2016
dbSNP: rs397507512
rs397507512
PTPN11
2 0.925 0.160 12 112450391 missense variant T/C;G snv 0.700 1.000 10 2003 2016
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 9 2006 2015
dbSNP: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 8 2003 2009
dbSNP: rs397507506
rs397507506
PTPN11
6 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 1.000 7 2003 2015
dbSNP: rs397516810
rs397516810
PTPN11
2 0.925 0.160 12 112477652 missense variant T/G snv 0.700 1.000 7 2002 2014
dbSNP: rs121918470
rs121918470
PTPN11
10 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 1.000 6 2004 2012
dbSNP: rs727503380
rs727503380
PTPN11
2 0.925 0.160 12 112450386 missense variant A/T snv 0.700 1.000 6 2004 2013
dbSNP: rs121918468
rs121918468
PTPN11
3 0.882 0.160 12 112488444 missense variant G/A;T snv 0.700 1.000 5 2004 2013
dbSNP: rs397517154
rs397517154
SOS1
16 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 4 2007 2011
dbSNP: rs574088829
rs574088829
SOS1
2 0.925 0.160 2 39012319 missense variant T/A;G snv 4.0E-06 0.700 1.000 4 2007 2013
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 3 2002 2006
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
16 0.724 0.440 11 533873 missense variant C/A;G;T snv 0.700 1.000 2 1986 1991
dbSNP: rs397507518
rs397507518
PTPN11
2 0.925 0.160 12 112450508 missense variant G/A snv 0.700 1.000 2 2014 2014
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs397516830
rs397516830
RAF1
5 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.700 1.000 1 2012 2012