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: rs397516810
rs397516810
PTPN11
2 0.925 0.160 12 112477652 missense variant T/G snv 0.700 1.000 5 2002 2009
dbSNP: rs397517149
rs397517149
SOS1
4 0.851 0.200 2 39022786 missense variant T/G snv 0.700 1.000 5 2007 2018
dbSNP: rs727504375
rs727504375
BRAF
2 0.925 0.200 7 140778059 missense variant T/G snv 0.700 0
dbSNP: rs869025195
rs869025195
RIT1
11 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
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: rs397507531
rs397507531
PTPN11
18 0.752 0.320 12 112473040 missense variant T/C;G snv 0.700 1.000 5 2002 2009
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: rs397516904
rs397516904
BRAF
2 0.925 0.200 7 140801487 missense variant T/C;G snv 0.700 0
dbSNP: rs193929331
rs193929331
KRAS
2 0.925 0.160 12 25245372 missense variant T/C snv 0.700 1.000 8 2007 2014
dbSNP: rs397517172
rs397517172
SOS1
3 0.925 0.160 2 39056704 missense variant T/C snv 0.700 1.000 5 2008 2018
dbSNP: rs727503109
rs727503109
KRAS
17 0.752 0.320 12 25245277 missense variant T/C snv 0.700 1.000 3 1993 2009
dbSNP: rs727504370
rs727504370
MAP2K2
2 0.925 0.200 19 4110558 missense variant T/C snv 0.700 1.000 3 2007 2008
dbSNP: rs869025193
rs869025193
RIT1
2 0.925 0.160 1 155904498 missense variant T/C snv 0.700 1.000 3 2013 2016
dbSNP: rs1057519819
rs1057519819
MAP2K1
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs202247812
rs202247812
KRAS
2 1.000 0.160 12 25225717 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs397516815
rs397516815
RAF1
2 0.925 0.160 3 12585760 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs397517146
rs397517146
SOS1
1 1.000 0.160 2 39024080 missense variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs745410279
rs745410279
IGF1
2 0.925 0.200 12 102478498 missense variant T/C snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs878854761
rs878854761
HRAS ; LRRC56
1 1.000 0.160 11 534319 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs397516822
rs397516822
RAF1
1 1.000 0.160 3 12608823 missense variant T/C snv 0.700 0
dbSNP: rs397516825
rs397516825
RAF1
1 1.000 0.160 3 12604204 missense variant T/C snv 0.700 0
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: 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: 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: rs397507484
rs397507484
BRAF
10 0.752 0.480 7 140753333 missense variant T/A;C;G snv 0.700 1.000 3 2009 2014