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: rs1060502543
rs1060502543 		4 54727501 inframe deletion GAT/- delins
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 5 1998 2015
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: rs121913685
rs121913685 		0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins
CUI: C0040100
Disease: Thymoma
Thymoma 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 4 2004 2009
dbSNP: rs1057519704
rs1057519704 		0.882 0.080 4 54727425 missense variant T/A snv
CUI: C0040100
Disease: Thymoma
Thymoma 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 3 2011 2013
dbSNP: rs1057519708
rs1057519708 		1.000 0.040 4 54728096 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 3 2011 2014
dbSNP: rs1057519711
rs1057519711 		0.882 0.240 4 54733168 missense variant T/A snv
CUI: C0040100
Disease: Thymoma
Thymoma 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 3 2007 2012
dbSNP: rs1057519713
rs1057519713 		0.925 0.120 4 54736498 missense variant G/C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2007 2013
dbSNP: rs1057519761
rs1057519761 		4 54733175 missense variant T/G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2007 2013
dbSNP: rs121913513
rs121913513 		0.776 0.120 4 54727495 missense variant T/C snv
CUI: C0040100
Disease: Thymoma
Thymoma 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 3 2007 2012
dbSNP: rs121913514
rs121913514 		0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2005 2014
dbSNP: rs121913517
rs121913517 		0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0040100
Disease: Thymoma
Thymoma 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 3 2003 2012
dbSNP: rs1560418178
rs1560418178 		4 54727909 missense variant G/A snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 1995 2007
dbSNP: rs993022333
rs993022333 		0.851 0.080 4 54733173 missense variant A/C;T snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 3 2007 2013
dbSNP: rs1057519701
rs1057519701 		1.000 0.080 4 54725978 missense variant G/A snv
CUI: C0040100
Disease: Thymoma
Thymoma 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 2 2011 2012
dbSNP: rs1057519703
rs1057519703 		1.000 0.040 4 54727418 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1057519704
rs1057519704 		0.882 0.080 4 54727425 missense variant T/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 2 2011 2012
dbSNP: rs1057519705
rs1057519705 		1.000 0.040 4 54727464 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1057519706
rs1057519706 		1.000 0.040 4 54727474 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1057519708
rs1057519708 		1.000 0.040 4 54728096 missense variant T/A;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2007 2011
dbSNP: rs1057519709
rs1057519709 		0.925 0.080 4 54733154 missense variant GA/AT mnv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 2 2009 2013
dbSNP: rs121913235
rs121913235 		0.925 0.080 4 54727437 missense variant T/A;C;G snv
CUI: C0040100
Disease: Thymoma
Thymoma 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 2 2003 2012
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 2 2009 2013
dbSNP: rs121913509
rs121913509 		1.000 0.080 4 54736528 missense variant G/A snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2005 2014
dbSNP: rs121913514
rs121913514 		0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 2 2011 2012