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: 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: rs6509365
rs6509365 		0.925 0.160 19 48240212 intron variant A/G snv 0.34
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2013 2013
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: rs7248320
rs7248320 		0.776 0.160 19 48256972 non coding transcript exon variant G/A snv 0.65
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		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: 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: 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: 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: 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: rs7248320
rs7248320 		0.776 0.160 19 48256972 non coding transcript exon variant G/A snv 0.65
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 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: 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: 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