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: rs777243508
rs777243508
LZTR1
2 0.925 0.160 22 20993977 stop gained G/A snv 1.4E-04 1.8E-04 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: rs201247699
rs201247699
PTPN11
2 0.925 0.240 12 112486476 missense variant G/C snv 6.4E-05 2.1E-05 0.010 1.000 1 2011 2011
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: rs376607329
rs376607329
PTPN11
4 0.851 0.200 12 112472981 missense variant G/A;T snv 3.2E-05 3.5E-05 0.700 1.000 3 2011 2018
dbSNP: rs746830376
rs746830376
EPHB2
4 0.925 0.200 1 22784501 missense variant G/A snv 2.4E-05 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs1040124120
rs1040124120
ZHX2
2 1.000 0.160 8 122953350 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2018 2018
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: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 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: rs1434040739
rs1434040739
HRAS ; LRRC56 ; LOC101059906
2 0.925 0.200 11 532745 missense variant T/A snv 8.1E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 4 2004 2009
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: 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: 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: 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: rs104894361
rs104894361
KRAS
3 0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs768366978
rs768366978
NF1
5 0.851 0.240 17 31352411 missense variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs397517147
rs397517147
SOS1
3 0.882 0.200 2 39023131 missense variant C/T snv 4.0E-06 0.700 1.000 6 2007 2010
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: rs397517154
rs397517154
SOS1
16 0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 19 2007 2018
dbSNP: rs137852814
rs137852814
SOS1
16 0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 0.700 1.000 8 2007 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: 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: rs1441638629
rs1441638629
CSHL1 ; GH1
2 0.925 0.200 17 63918773 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012