Disease: Mastocytosis, Systemic ×
Source: ALL
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: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		Neoplasms; Immune System Diseases 0.800 0.987 76 1998 2020
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		Neoplasms; Immune System Diseases 0.100 0.987 75 1998 2020
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		Neoplasms; Immune System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		Neoplasms; Immune System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs121913521
rs121913521 		0.790 0.120 4 54727447 missense variant T/A;C;G snv
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		Neoplasms; Immune System Diseases 0.020 1.000 2 2007 2017
dbSNP: rs144369407
rs144369407 		1.000 0.080 4 54728031 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		Neoplasms; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3822214
rs3822214 		0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		Neoplasms; Immune System Diseases 0.010 1.000 1 2019 2019