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: rs4488910
rs4488910 		4 86441681 intron variant T/C snv 0.15
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2012 2012
dbSNP: rs4640633
rs4640633 		1.000 0.040 4 86503186 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6838659
rs6838659 		1.000 0.040 4 86496138 intron variant A/G snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs369576054
rs369576054 		0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 1.000 2 1999 2001
dbSNP: rs1257715362
rs1257715362 		0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1257715362
rs1257715362 		0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1257715362
rs1257715362 		0.925 0.120 4 85995065 missense variant A/G snv 7.0E-06
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs369576054
rs369576054 		0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs369576054
rs369576054 		0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2001 2001
dbSNP: rs369576054
rs369576054 		0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2001 2001
dbSNP: rs369576054
rs369576054 		0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2001 2001
dbSNP: rs369576054
rs369576054 		0.807 0.120 4 85994925 missense variant C/T snv 2.8E-05 4.9E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs55805125
rs55805125 		1.000 0.080 4 86334965 intron variant -/CA delins
CUI: C2363973
Disease: Chronic thromboembolic pulmonary hypertension
Chronic thromboembolic pulmonary hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016