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: 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: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs104894362
rs104894362
KRAS
3 0.882 0.200 12 25209894 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1057519819
rs1057519819
MAP2K1
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1114167651
rs1114167651
PTEN
2 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs113461014
rs113461014
STAT5B
2 0.925 0.200 17 42232124 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1239105602
rs1239105602
PTEN ; KLLN
2 1.000 0.160 10 87864168 5 prime UTR variant C/T snv 0.010 1.000 1 2007 2007
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: 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: 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
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: rs202247812
rs202247812
KRAS
2 1.000 0.160 12 25225717 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs267606920
rs267606920
NRAS
4 0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
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: rs397507548
rs397507548
PTPN11
6 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs397509345
rs397509345
PTPN11
5 0.851 0.160 12 112489093 missense variant AG/CC mnv 0.010 1.000 1 2012 2012
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: 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: 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: 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: 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