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: rs397507517
rs397507517
PTPN11
8 0.827 0.160 12 112450497 missense variant A/C snv 0.700 1.000 9 2002 2011
dbSNP: rs727505093
rs727505093
SOS1
1 1.000 0.160 2 39014838 missense variant A/C snv 0.700 1.000 4 2001 2014
dbSNP: rs397507548
rs397507548
PTPN11
6 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs397509343
rs397509343
BRAF
1 1.000 0.160 7 140801531 missense variant A/C snv 0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.710 1.000 15 2002 2011
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.710 1.000 9 2002 2017
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: 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
dbSNP: rs397517150
rs397517150
SOS1
7 0.827 0.160 2 39023118 missense variant A/C;G snv 0.720 1.000 3 2011 2018
dbSNP: rs397517153
rs397517153
SOS1
2 0.925 0.160 2 39022779 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs397516903
rs397516903
BRAF
2 0.925 0.200 7 140801533 missense variant A/C;G snv 0.700 0
dbSNP: rs397517174
rs397517174
SOS1
3 0.925 0.160 2 39054822 missense variant A/C;G snv 0.700 0
dbSNP: rs121918461
rs121918461
PTPN11
12 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.720 1.000 27 2001 2018
dbSNP: rs397507505
rs397507505
PTPN11
5 0.827 0.240 12 112450352 missense variant A/C;G;T snv 0.710 1.000 17 2003 2015
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: rs397516830
rs397516830
RAF1
5 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.700 1.000 2 2007 2007
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: rs730881014
rs730881014
RIT1
15 0.776 0.360 1 155904494 stop gained A/C;G;T snv 0.700 0
dbSNP: rs397517042
rs397517042
KRAS
2 0.925 0.200 12 25209896 missense variant A/C;T snv 0.700 1.000 2 2007 2007
dbSNP: rs28933386
rs28933386
PTPN11
15 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.720 1.000 15 2001 2019
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.720 0.923 13 2001 2013
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.730 1.000 11 2001 2009
dbSNP: rs267607048
rs267607048
SHOC2
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.750 1.000 9 2009 2019
dbSNP: rs397507501
rs397507501
PTPN11
5 0.882 0.160 12 112446385 missense variant A/G snv 0.710 1.000 9 2002 2013
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