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: C1112486
Disease: Aggressive Systemic Mastocytosis
Aggressive Systemic Mastocytosis
Neoplasms; Immune System Diseases 0.020 1.000 2 2014 2014
dbSNP: rs121913682
rs121913682
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C1112486
Disease: Aggressive Systemic Mastocytosis
Aggressive Systemic Mastocytosis
Neoplasms; Immune System Diseases 0.020 1.000 2 2014 2014