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: C0024899
Disease: Mastocytosis
Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases 0.100 0.967 30 1995 2020
dbSNP: rs121913682
rs121913682
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases 0.100 0.967 30 1995 2020
dbSNP: rs3822214
rs3822214
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2008 2014
dbSNP: rs121913521
rs121913521
0.790 0.120 4 54727447 missense variant T/A;C;G snv
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2013 2013