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: 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: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.740 1.000 24 2002 2015
dbSNP: rs121918466
rs121918466
PTPN11
14 0.752 0.280 12 112450416 missense variant A/G snv 0.730 1.000 11 2001 2009
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: 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: rs104894365
rs104894365
KRAS
9 0.827 0.320 12 25245345 missense variant C/T snv 0.720 1.000 9 2006 2018
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: rs104894360
rs104894360
KRAS
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.720 1.000 7 2006 2008
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: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.710 1.000 18 2002 2009
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: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.710 1.000 17 2002 2013
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: rs397507509
rs397507509
PTPN11
9 0.807 0.240 12 112450359 missense variant G/C;T snv 0.710 1.000 14 2002 2014
dbSNP: rs397507545
rs397507545
PTPN11
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.710 1.000 12 2003 2019
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: rs397507501
rs397507501
PTPN11
5 0.882 0.160 12 112446385 missense variant A/G snv 0.710 1.000 9 2002 2013
dbSNP: rs397507514
rs397507514
PTPN11
10 0.790 0.240 12 112450408 missense variant G/C;T snv 0.710 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: rs121918454
rs121918454
PTPN11
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.710 1.000 8 2001 2014
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: rs80338797
rs80338797
RAF1
7 0.827 0.160 3 12584624 missense variant G/C;T snv 0.710 1.000 8 2007 2018
dbSNP: rs672601334
rs672601334
RIT1
18 0.752 0.400 1 155904798 missense variant G/C snv 0.710 1.000 7 2013 2019