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: rs121913529
rs121913529
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 8 2005 2019
dbSNP: rs121913530
rs121913530
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 0 2007 2012
dbSNP: rs121913237
rs121913237
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 0 2007 2014
dbSNP: rs397507520
rs397507520
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.710 1.000 15 2002 2013
dbSNP: rs112445441
rs112445441
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: rs121918459
rs121918459
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs17851045
rs17851045
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs121434596
rs121434596
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 0 2007 2014
dbSNP: rs121913250
rs121913250
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.710 1.000 5 2000 2012
dbSNP: rs121918455
rs121918455
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs121918457
rs121918457
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs397507545
rs397507545
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 11 2003 2017
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 1.000 8 2002 2012
dbSNP: rs121918464
rs121918464
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 0 2003 2019
dbSNP: rs121918453
rs121918453
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 5 2003 2016
dbSNP: rs121918454
rs121918454
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 0 2003 2016
dbSNP: rs121918462
rs121918462
0.742 0.320 12 112450398 missense variant C/T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.730 1.000 0 2004 2014
dbSNP: rs121918456
rs121918456
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs121918466
rs121918466
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs28933386
rs28933386
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs397507531
rs397507531
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs397507547
rs397507547
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs397507510
rs397507510
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 19 2003 2017
dbSNP: rs137854550
rs137854550
NF1
0.790 0.360 17 31258500 missense variant A/C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0
dbSNP: rs397507514
rs397507514
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.700 0