Source: CLINVAR ×
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: rs121918464
rs121918464
PTPN11
7 0.708 0.440 12 112450406 missense variant G/A;C snv 0.870 1.000 0 2003 2019
dbSNP: rs121913529
rs121913529
KRAS
19 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.820 1.000 8 2005 2019
dbSNP: rs397507510
rs397507510
PTPN11
5 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.810 1.000 19 2003 2017
dbSNP: rs112445441
rs112445441
KRAS
8 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.810 1.000 0 2015 2015
dbSNP: rs121434596
rs121434596
NRAS
14 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.810 1.000 0 2007 2014
dbSNP: rs121913237
rs121913237
NRAS
12 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.810 1.000 0 2007 2014
dbSNP: rs121913530
rs121913530
KRAS
11 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.810 1.000 0 2007 2012
dbSNP: rs121918461
rs121918461
PTPN11
8 0.827 0.240 12 112450362 missense variant A/C;G;T snv 0.800 1.000 22 2001 2016
dbSNP: rs121918465
rs121918465
PTPN11
6 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.800 1.000 11 2003 2016
dbSNP: rs397507545
rs397507545
PTPN11
16 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.800 1.000 11 2003 2017
dbSNP: rs121918453
rs121918453
PTPN11
15 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 5 2003 2016
dbSNP: rs121918454
rs121918454
PTPN11
16 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.800 1.000 0 2003 2016
dbSNP: rs121918546
rs121918546
ARHGAP26
1 1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06 0.800 1.000 0 2014 2014
dbSNP: rs397507511
rs397507511
PTPN11
2 0.882 0.240 12 112450385 missense variant G/A;C snv 0.800 1.000 0 2003 2016
dbSNP: rs121918462
rs121918462
PTPN11
8 0.742 0.320 12 112450398 missense variant C/T snv 0.730 1.000 0 2004 2014
dbSNP: rs397507520
rs397507520
PTPN11
34 0.658 0.520 12 112453279 missense variant G/C;T snv 0.710 1.000 15 2002 2013
dbSNP: rs121913250
rs121913250
NRAS
12 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.710 1.000 5 2000 2012
dbSNP: rs387906666
rs387906666
CBL
3 0.827 0.080 11 119278182 missense variant A/C;G snv 0.710 1.000 0 2015 2015
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 0.700 1.000 8 2002 2012
dbSNP: rs727504426
rs727504426
CBL
3 0.882 0.320 11 119278508 splice acceptor variant A/G snv 0.700 1.000 4 2009 2012
dbSNP: rs1064794277
rs1064794277
NF1
5 0.827 0.280 17 31232832 missense variant G/A;C;T snv 0.700 0
dbSNP: rs1131691073
rs1131691073
NF1
6 0.827 0.280 17 31340553 stop gained C/T snv 0.700 0
dbSNP: rs1131691075
rs1131691075
NF1
6 0.827 0.280 17 31235773 splice donor variant G/A;T snv 0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0