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: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C0039538
Disease: Teratoma
Teratoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913506
rs121913506 		0.677 0.320 4 54733154 missense variant G/A;C;T snv
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913520
rs121913520 		1.000 0.080 4 54727443 missense variant G/A snv
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs13135792
rs13135792 		4 54686164 intron variant T/C snv 0.26
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs17084733
rs17084733 		1.000 0.080 4 54738774 3 prime UTR variant G/A snv 0.10
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
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
dbSNP: rs60334317
rs60334317 		4 54715585 intron variant C/T snv 3.1E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs993022333
rs993022333 		0.851 0.080 4 54733173 missense variant A/C;T snv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		Neoplasms 0.010 1.000 1 2019 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: 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: 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: 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: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.040 1.000 4 2007 2018
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.040 1.000 4 2007 2018
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.040 1.000 4 2007 2018
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.040 1.000 4 2007 2018
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: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.020 1.000 2 2015 2018
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.020 1.000 2 2015 2018
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C4267893
Disease: Monoclonal mast cell activation syndrome
Monoclonal mast cell activation syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs121913507
rs121913507 		0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0413235
Disease: Idiopathic anaphylaxis
Idiopathic anaphylaxis 		Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0413235
Disease: Idiopathic anaphylaxis
Idiopathic anaphylaxis 		Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121913682
rs121913682 		0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018