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: rs397507540
rs397507540
PTPN11
8 0.851 0.160 12 112489048 missense variant C/A;T snv 0.700 1.000 13 2004 2014
dbSNP: rs397507501
rs397507501
PTPN11
5 0.882 0.160 12 112446385 missense variant A/G snv 0.710 1.000 9 2002 2013
dbSNP: rs397507517
rs397507517
PTPN11
8 0.827 0.160 12 112450497 missense variant A/C snv 0.700 1.000 9 2002 2011
dbSNP: rs397507529
rs397507529
PTPN11
5 0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06 0.700 1.000 9 2001 2011
dbSNP: rs104894364
rs104894364
KRAS
2 0.925 0.160 12 25227351 missense variant G/A snv 0.710 1.000 8 2006 2013
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: rs397507544
rs397507544
PTPN11
1 1.000 0.160 12 112489081 missense variant C/T snv 0.700 1.000 7 2004 2008
dbSNP: rs397517164
rs397517164
SOS1
2 0.925 0.160 2 39058696 missense variant C/T snv 0.700 1.000 7 2007 2014
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: 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: rs727503380
rs727503380
PTPN11
2 0.925 0.160 12 112450386 missense variant A/T snv 0.700 1.000 6 2004 2017
dbSNP: rs121918469
rs121918469
PTPN11
3 0.882 0.160 12 112488454 missense variant G/C snv 0.700 1.000 5 2006 2009
dbSNP: rs397507512
rs397507512
PTPN11
2 0.925 0.160 12 112450391 missense variant T/C;G snv 0.700 1.000 5 2003 2008
dbSNP: rs397507543
rs397507543
PTPN11
2 0.925 0.160 12 112489078 missense variant G/A snv 0.700 1.000 5 2002 2010
dbSNP: rs397516802
rs397516802
PTPN11
1 1.000 0.160 12 112450397 missense variant AC/CT mnv 0.700 1.000 5 2003 2012
dbSNP: rs397516810
rs397516810
PTPN11
2 0.925 0.160 12 112477652 missense variant T/G snv 0.700 1.000 5 2002 2009
dbSNP: rs397516828
rs397516828
RAF1
2 0.925 0.160 3 12604188 missense variant G/A;C snv 0.700 1.000 5 2007 2015
dbSNP: rs397517172
rs397517172
SOS1
3 0.925 0.160 2 39056704 missense variant T/C snv 0.700 1.000 5 2008 2018
dbSNP: rs727503110
rs727503110
KRAS
3 0.882 0.160 12 25245320 missense variant T/A;C snv 0.700 1.000 5 2002 2011
dbSNP: rs869025189
rs869025189
RIT1
2 0.925 0.160 1 155910658 missense variant C/G snv 7.0E-06 0.700 1.000 5 2013 2016
dbSNP: rs121918470
rs121918470
PTPN11
10 0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06 0.700 1.000 4 2004 2006