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: 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: rs104894366
rs104894366
KRAS
9 0.776 0.400 12 25245284 missense variant G/A;C snv 0.710 1.000 5 1993 2011
dbSNP: rs727503108
rs727503108
KRAS
3 0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06 0.710 1.000 5 2006 2013
dbSNP: rs397507541
rs397507541
PTPN11
5 0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 4 2004 2014
dbSNP: rs397516813
rs397516813
RAF1
3 0.925 0.160 3 12599717 missense variant C/G snv 0.710 1.000 1 2018 2018
dbSNP: rs869025194
rs869025194
RIT1
4 0.882 0.280 1 155904496 missense variant A/C;G;T snv 0.710 1.000 1 2016 2016
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 19 2007 2018
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: rs121918458
rs121918458
PTPN11
8 0.807 0.320 12 112489080 missense variant T/A;G snv 0.700 1.000 12 2002 2013
dbSNP: rs397507549
rs397507549
PTPN11
13 0.742 0.240 12 112489104 missense variant C/A;G snv 0.700 1.000 10 2005 2012
dbSNP: rs80338796
rs80338796
RAF1
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 10 1992 2018
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: 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: 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: 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