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: rs1062808
rs1062808 		19 48208219 3 prime UTR variant T/C snv 0.31
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4801751
rs4801751 		19 48184522 intron variant T/C snv 0.30
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.070 0.857 7 2008 2015
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.030 0.667 3 2010 2015
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2008 2011
dbSNP: rs1271727711
rs1271727711 		1.000 0.040 19 48240991 missense variant A/T snv 7.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1375532403
rs1375532403 		0.925 0.040 19 48230930 missense variant C/T snv 7.0E-06
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2014 2014
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: rs1384663432
rs1384663432 		0.925 0.040 19 48218886 missense variant T/C snv
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1384663432
rs1384663432 		0.925 0.040 19 48218886 missense variant T/C snv
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1972619
rs1972619 		1.000 0.040 19 48247672 intron variant C/T snv 0.16
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System 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: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		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: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular 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: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular 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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		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: 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
dbSNP: rs2043211
rs2043211 		0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		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: 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: 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: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular 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: 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: 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: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2019 2019