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: rs7248320
rs7248320 		0.776 0.160 19 48256972 non coding transcript exon variant G/A snv 0.65
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs7248320
rs7248320 		0.776 0.160 19 48256972 non coding transcript exon variant G/A snv 0.65
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6509365
rs6509365 		0.925 0.160 19 48240212 intron variant A/G snv 0.34
CUI: C1531608
Disease: Smoldering myeloma
Smoldering myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7248320
rs7248320 		0.776 0.160 19 48256972 non coding transcript exon variant G/A snv 0.65
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7248320
rs7248320 		0.776 0.160 19 48256972 non coding transcript exon variant G/A snv 0.65
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7248320
rs7248320 		0.776 0.160 19 48256972 non coding transcript exon variant G/A snv 0.65
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7248320
rs7248320 		0.776 0.160 19 48256972 non coding transcript exon variant G/A snv 0.65
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1375532403
rs1375532403 		0.925 0.040 19 48230930 missense variant C/T snv 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C1273976
Disease: First myocardial infarction
First myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.070 0.714 7 2007 2018
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C3899278
Disease: Early Rheumatoid Arthritis
Early Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2010 2010