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: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2107425
rs2107425 		0.732 0.280 11 1999845 intron variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 0.667 3 2016 2017
dbSNP: rs2107425
rs2107425 		0.732 0.280 11 1999845 intron variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2016 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2017 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2016 2017
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2107425
rs2107425 		0.732 0.280 11 1999845 intron variant C/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2016 2018
dbSNP: rs2107425
rs2107425 		0.732 0.280 11 1999845 intron variant C/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2016 2018
dbSNP: rs2107425
rs2107425 		0.732 0.280 11 1999845 intron variant C/T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2016 2018
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2017 2018
dbSNP: rs17658052
rs17658052 		0.882 0.080 11 2001669 upstream gene variant G/A snv 1.6E-04
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17658052
rs17658052 		0.882 0.080 11 2001669 upstream gene variant G/A snv 1.6E-04
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: rs17658052
rs17658052 		0.882 0.080 11 2001669 upstream gene variant G/A snv 1.6E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2067051
rs2067051 		0.882 0.120 11 1996938 non coding transcript exon variant C/A;T snv 7.0E-06; 0.41
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2071095
rs2071095 		0.925 0.080 11 1999397 intron variant C/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2071095
rs2071095 		0.925 0.080 11 1999397 intron variant C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018