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: rs121918460
rs121918460
PTPN11
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.710 1.000 8 2002 2012
dbSNP: rs137852813
rs137852813
SOS1
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.710 0.875 8 2007 2014
dbSNP: rs137852814
rs137852814
SOS1
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 1.000 8 2007 2014
dbSNP: rs193929331
rs193929331
KRAS
2 0.925 0.160 12 25245372 missense variant T/C snv 0.700 1.000 8 2007 2014
dbSNP: rs397507539
rs397507539
PTPN11
8 0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 0.720 1.000 8 2004 2018
dbSNP: rs80338797
rs80338797
RAF1
7 0.827 0.160 3 12584624 missense variant G/C;T snv 0.710 1.000 8 2007 2018
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: rs397507510
rs397507510
PTPN11
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.700 1.000 7 2002 2014
dbSNP: rs397507544
rs397507544
PTPN11
1 1.000 0.160 12 112489081 missense variant C/T snv 0.700 1.000 7 2004 2008
dbSNP: rs397507547
rs397507547
PTPN11
14 0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 0.700 1.000 7 2002 2008
dbSNP: rs397517159
rs397517159
SOS1
4 0.882 0.200 2 39007168 missense variant C/T snv 0.700 1.000 7 2007 2013
dbSNP: rs397517164
rs397517164
SOS1
2 0.925 0.160 2 39058696 missense variant C/T snv 0.700 1.000 7 2007 2014
dbSNP: rs483352822
rs483352822
RIT1
16 0.776 0.360 1 155904470 stop lost C/A;G;T snv 0.700 1.000 7 2013 2016
dbSNP: rs672601334
rs672601334
RIT1
18 0.752 0.400 1 155904798 missense variant G/C snv 0.710 1.000 7 2013 2019
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: rs121918463
rs121918463
PTPN11
6 0.851 0.240 12 112477651 missense variant T/A;C;G snv 0.710 1.000 6 2002 2012
dbSNP: rs3730271
rs3730271
RAF1
1 1.000 0.160 3 12604195 missense variant A/C;G;T snv 0.700 1.000 6 2003 2014
dbSNP: rs397507523
rs397507523
PTPN11
3 0.882 0.160 12 112472954 missense variant A/G snv 0.700 1.000 6 2003 2014
dbSNP: rs397517076
rs397517076
CBL
3 0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 0.700 1.000 6 2009 2015
dbSNP: rs397517147
rs397517147
SOS1
3 0.882 0.200 2 39023131 missense variant C/T snv 4.0E-06 0.700 1.000 6 2007 2010
dbSNP: rs727503380
rs727503380
PTPN11
2 0.925 0.160 12 112450386 missense variant A/T snv 0.700 1.000 6 2004 2017
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: 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: rs121918469
rs121918469
PTPN11
3 0.882 0.160 12 112488454 missense variant G/C snv 0.700 1.000 5 2006 2009
dbSNP: rs137852812
rs137852812
SOS1
4 0.851 0.200 2 39051211 missense variant G/T snv 0.700 1.000 5 2007 2010