Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918464
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.870 1.000 3 2003 2019
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.820 1.000 1 2005 2019
dbSNP: rs397507510
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.810 1.000 3 2003 2017
dbSNP: rs121434596
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.810 1.000 2 2007 2014
dbSNP: rs121913237
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.810 1.000 2 2007 2014
dbSNP: rs121913530
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.810 1.000 1 2007 2012
dbSNP: rs112445441
rs112445441
KRAS
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.810 1.000 0 2015 2015
dbSNP: rs121918453
rs121918453
PTPN11
0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 3 2003 2016
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 3 2003 2016
dbSNP: rs121918461
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 3 2001 2016
dbSNP: rs121918465
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 3 2003 2016
dbSNP: rs397507545
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 3 2003 2017
dbSNP: rs397507511
rs397507511
PTPN11
0.882 0.240 12 112450385 missense variant G/A;C snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 2 2003 2016
dbSNP: rs121918546
rs121918546
ARHGAP26
1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 1 2014 2014
dbSNP: rs397507546
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 1.000 2 2003 2016
dbSNP: rs267607042
rs267607042
SETBP1
0.851 0.320 18 44951942 missense variant G/A;C snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 1.000 1 2013 2013