Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
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
Neoplasms; Hemic and Lymphatic Diseases 0.810 1.000 3 2007 2014
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
Neoplasms; Hemic and Lymphatic Diseases 0.810 1.000 3 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
Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 6 2000 2012
dbSNP: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057519834
rs1057519834
0.658 0.480 1 114713908 missense variant TG/CT mnv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
0.583 0.600 1 114713908 missense variant T/A;C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012