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: rs121918546
rs121918546
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
Neoplasms; Hemic and Lymphatic Diseases 0.800 1.000 1 2014 2014