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: rs11042170
rs11042170 		1.000 0.080 11 2000395 intron variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
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: 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: 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: rs2735970
rs2735970 		1.000 0.080 11 2000585 intron variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2735970
rs2735970 		1.000 0.080 11 2000585 intron variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2735970
rs2735970 		1.000 0.080 11 2000585 intron variant T/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs4930101
rs4930101 		1.000 0.080 11 2000629 intron variant G/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2067051
rs2067051 		0.882 0.120 11 1996938 non coding transcript exon variant C/A;T snv 7.0E-06; 0.41
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2067051
rs2067051 		0.882 0.120 11 1996938 non coding transcript exon variant C/A;T snv 7.0E-06; 0.41
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
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: 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: rs4929984
rs4929984 		0.925 0.160 11 2003453 upstream gene variant C/A snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 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: rs3024270
rs3024270 		0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3024270
rs3024270 		0.776 0.200 11 1996209 non coding transcript exon variant C/G;T snv 0.46; 5.2E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019