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: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.800 1.000 2 2012 2019
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.760 1.000 8 2012 2019
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.720 0.667 3 2015 2019
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.710 1.000 3 2007 2011
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 3 2010 2012
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 2 2010 2010
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 2 2010 2010
dbSNP: rs1035798
rs1035798 		1.000 0.040 6 32183445 splice region variant G/A snv 0.24 0.19
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs140865314
rs140865314 		1.000 0.040 6 32185629 3 prime UTR variant C/A snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs140865314
rs140865314 		1.000 0.040 6 32185629 3 prime UTR variant C/A snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs146827975
rs146827975 		1.000 0.040 6 32185632 3 prime UTR variant A/C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs146827975
rs146827975 		1.000 0.040 6 32185632 3 prime UTR variant A/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs169504
rs169504 		6 32185629 3 prime UTR variant C/A snv 0.20
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0272178
Disease: Drug-induced neutropenia
Drug-induced neutropenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs3131300
rs3131300 		1.000 0.120 6 32184157 non coding transcript exon variant A/G snv 0.14 0.14
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3134940
rs3134940 		0.925 0.200 6 32182039 intron variant T/C snv 0.13 0.14
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3134940
rs3134940 		0.925 0.200 6 32182039 intron variant T/C snv 0.13 0.14
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs8365
rs8365 		1.000 0.120 6 32180626 3 prime UTR variant G/C snv 0.14
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 1.000 12 2001 2016