EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
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: rs1630736
rs1630736 		6 12295754 intron variant C/T snv 0.36
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1794849
rs1794849 		6 12294629 intron variant T/A;C snv 0.63
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0333559
Disease: Infarction, Lacunar
Infarction, Lacunar 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1629862
rs1629862 		1.000 0.040 6 12295643 intron variant A/G snv 0.89
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs553767245
rs553767245 		1.000 0.080 6 12292355 missense variant G/A snv 8.0E-06 3.5E-05
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs6458155
rs6458155 		1.000 0.040 6 12261688 intergenic variant T/C;G snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1438183776
rs1438183776 		1.000 0.080 6 12294084 missense variant G/C snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800541
rs1800541 		0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4714384
rs4714384 		0.925 0.080 6 12297620 downstream gene variant T/C snv 0.45
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4714384
rs4714384 		0.925 0.080 6 12297620 downstream gene variant T/C snv 0.45
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C4725861
Disease: Metastatic Malignant Neoplasm in the Viscera
Metastatic Malignant Neoplasm in the Viscera 		0.010 1.000 1 2017 2017
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016