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: rs121913507
rs121913507
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
Neoplasms 0.800 1.000 12 2004 2019
dbSNP: rs121913682
rs121913682
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
Neoplasms 0.100 1.000 12 2004 2019
dbSNP: rs1057519710
rs1057519710
0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
Neoplasms 0.020 1.000 2 1998 2019
dbSNP: rs121913506
rs121913506
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
Neoplasms 0.020 1.000 2 1998 2019
dbSNP: rs121913521
rs121913521
0.790 0.120 4 54727447 missense variant T/A;C;G snv
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell
Neoplasms 0.010 1.000 1 2013 2013