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: 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: rs121913517
rs121913517 		0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 18 1995 2014
dbSNP: rs121913513
rs121913513 		0.776 0.120 4 54727495 missense variant T/C snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.760 1.000 17 1995 2016
dbSNP: rs121913517
rs121913517 		0.851 0.120 4 54727444 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.850 1.000 16 1998 2017
dbSNP: rs121913235
rs121913235 		0.925 0.080 4 54727437 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 14 1995 2012
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell 		Neoplasms 0.800 1.000 12 2004 2019
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 1.000 12 2005 2018
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0023461
Disease: Leukemia, Mast-Cell
Leukemia, Mast-Cell 		Neoplasms 0.100 1.000 12 2004 2019
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.100 1.000 11 2005 2018
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.100 1.000 11 1998 2019
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.100 1.000 11 1998 2019
dbSNP: rs1057519710
rs1057519710 		0.695 0.280 4 54733166 missense variant G/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.710 1.000 10 1995 2013
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0272203
Disease: Indolent Systemic Mastocytosis
Indolent Systemic Mastocytosis 		Neoplasms; Immune System Diseases 0.100 0.900 10 2002 2020
dbSNP: rs121913523
rs121913523 		1.000 0.040 4 54728092 missense variant T/A;C snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.730 0.900 10 2005 2019
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0272203
Disease: Indolent Systemic Mastocytosis
Indolent Systemic Mastocytosis 		Neoplasms; Immune System Diseases 0.100 0.900 10 2002 2020
dbSNP: rs121913235
rs121913235 		0.925 0.080 4 54727437 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.730 1.000 9 1999 2018
dbSNP: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 9 1995 2011
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 8 1995 2011
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: rs121913512
rs121913512 		0.851 0.120 4 54728055 missense variant A/C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.760 1.000 8 2001 2014
dbSNP: rs121913521
rs121913521 		0.790 0.120 4 54727447 missense variant T/A;C;G snv
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.740 0.875 8 1999 2016
dbSNP: rs121913679
rs121913679 		1.000 0.120 4 54728121 missense variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1991 2000