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: rs397507544
rs397507544
PTPN11
1 1.000 0.160 12 112489081 missense variant C/T snv 0.700 1.000 7 2004 2008
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: rs397516802
rs397516802
PTPN11
1 1.000 0.160 12 112450397 missense variant AC/CT mnv 0.700 1.000 5 2003 2012
dbSNP: rs727505093
rs727505093
SOS1
1 1.000 0.160 2 39014838 missense variant A/C snv 0.700 1.000 4 2001 2014
dbSNP: rs397516803
rs397516803
PTPN11
1 1.000 0.160 12 112450415 missense variant C/A snv 0.700 1.000 3 2003 2012
dbSNP: rs727504504
rs727504504
CBL
1 1.000 0.160 11 119278169 missense variant C/A snv 0.700 1.000 3 2009 2010
dbSNP: rs397507507
rs397507507
PTPN11
1 1.000 0.160 12 112450358 missense variant G/A;C;T snv 0.700 1.000 2 2006 2012
dbSNP: rs397507527
rs397507527
PTPN11
1 1.000 0.160 12 112472989 missense variant G/A;T snv 4.0E-06 0.700 1.000 2 2006 2012
dbSNP: rs397507530
rs397507530
PTPN11
1 1.000 0.160 12 112473033 missense variant C/G snv 0.700 1.000 2 2013 2016
dbSNP: rs397516829
rs397516829
RAF1
1 1.000 0.160 3 12604184 missense variant A/T snv 0.700 1.000 2 2002 2010
dbSNP: rs1372399305
rs1372399305
ACAN
1 1.000 0.160 15 88847281 missense variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1375027098
rs1375027098
MRAS
1 1.000 0.160 3 138372947 frameshift variant G/- delins 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs140074469
rs140074469
GRAP2
1 1.000 0.160 22 39966148 missense variant G/A snv 7.2E-05 3.4E-04 0.010 1.000 1 2005 2005
dbSNP: rs368625677
rs368625677
RRAS
1 1.000 0.160 19 49637121 missense variant C/G;T snv 4.1E-06; 3.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs397507503
rs397507503
PTPN11
1 1.000 0.160 12 112450335 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs397516809
rs397516809
PTPN11
1 1.000 0.160 12 112472961 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs397517041
rs397517041
KRAS
1 1.000 0.160 12 25209908 missense variant C/A snv 0.700 1.000 1 2006 2006
dbSNP: rs397517146
rs397517146
SOS1
1 1.000 0.160 2 39024080 missense variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs727503381
rs727503381
PTPN11
1 1.000 0.160 12 112454636 missense variant A/T snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs786204916
rs786204916
PTEN
1 1.000 0.160 10 87894105 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs867983497
rs867983497
COMP
1 1.000 0.160 19 18785986 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs869025196
rs869025196
RIT1
1 1.000 0.160 1 155904489 missense variant G/A snv 7.0E-06 0.700 1.000 1 2016 2016
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: rs990933830
rs990933830
NCOR1
1 1.000 0.160 17 16058563 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1398859175
rs1398859175
PTPN11
1 1.000 0.160 12 112477882 missense variant A/G snv 7.0E-06 0.700 0