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: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.730 1.000 8 1999 2018
dbSNP: rs121913506
rs121913506
0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 1999 2014
dbSNP: rs121913509
rs121913509
1.000 0.080 4 54736528 missense variant G/A snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 1999 2014
dbSNP: rs1057519709
rs1057519709
0.925 0.080 4 54733154 missense variant GA/AT mnv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121913517
rs121913517
0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs753212327
rs753212327
1.000 0.080 4 54727275 missense variant C/A;G;T snv 4.0E-06
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121913682
rs121913682
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 1999 2018
dbSNP: rs993022333
rs993022333
0.851 0.080 4 54733173 missense variant A/C;T snv
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011