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: rs3741219
rs3741219 		0.776 0.280 11 1995389 non coding transcript exon variant A/G snv 0.42
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2016 2019
dbSNP: rs3741219
rs3741219 		0.776 0.280 11 1995389 non coding transcript exon variant A/G snv 0.42
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 < 0.001 2 2016 2019
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: rs2251375
rs2251375 		1.000 0.080 11 1998266 intron variant C/A snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs2735469
rs2735469 		0.882 0.080 11 2001574 upstream gene variant A/G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs2735469
rs2735469 		0.882 0.080 11 2001574 upstream gene variant A/G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs2735469
rs2735469 		0.882 0.080 11 2001574 upstream gene variant A/G snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2020 2020
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: rs3741219
rs3741219 		0.776 0.280 11 1995389 non coding transcript exon variant A/G snv 0.42
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs4929984
rs4929984 		0.925 0.160 11 2003453 upstream gene variant C/A snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2020 2020
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 0.500 2 2019 2019
dbSNP: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 0.500 2 2019 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
dbSNP: rs2839698
rs2839698 		0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
dbSNP: rs3024270
rs3024270 		0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.020 0.500 2 2019 2019
dbSNP: rs3024270
rs3024270 		0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
dbSNP: rs3024270
rs3024270 		0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.020 0.500 2 2019 2019
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: rs217727
rs217727 		0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2016 2019