EDNRB, endothelin receptor type B, 1910

N. diseases: 215; N. variants: 15
Source: BEFREE ×
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: rs142569954
rs142569954 		0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 1.000 2 2003 2007
dbSNP: rs5349
rs5349 		0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.020 1.000 2 2003 2007
dbSNP: rs5351
rs5351 		0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2007 2017
dbSNP: rs104894387
rs104894387 		0.882 0.080 13 77901181 missense variant C/A snv 2.8E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1994 1994
dbSNP: rs104894389
rs104894389 		0.925 0.080 13 77901185 stop gained C/G;T snv 4.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs10507875
rs10507875 		0.925 0.160 13 77943119 intron variant A/G snv 0.17
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10507875
rs10507875 		0.925 0.160 13 77943119 intron variant A/G snv 0.17
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10507875
rs10507875 		0.925 0.160 13 77943119 intron variant A/G snv 0.17
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: rs112618428
rs112618428 		1.000 0.080 13 77903255 synonymous variant G/A snv 8.0E-06 5.6E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs142569954
rs142569954 		0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs142569954
rs142569954 		0.882 0.160 13 77918396 missense variant C/G;T snv 4.1E-06; 2.1E-05
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs200363611
rs200363611 		0.925 0.040 13 77900651 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2018 2018
dbSNP: rs3759475
rs3759475 		1.000 0.080 13 77920970 intron variant A/G snv 0.53
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3818416
rs3818416 		1.000 0.080 13 77900333 intron variant A/C snv 0.75
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4885493
rs4885493 		13 77908928 intron variant C/G snv 0.34
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5348
rs5348 		1.000 0.080 13 77903539 synonymous variant A/G;T snv 1.00
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs5349
rs5349 		0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs5349
rs5349 		0.882 0.160 13 77903530 synonymous variant G/A snv 5.5E-03 1.1E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs5351
rs5351 		0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5351
rs5351 		0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs5351
rs5351 		0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5351
rs5351 		0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs5351
rs5351 		0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs5351
rs5351 		0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5352
rs5352 		0.827 0.200 13 77901095 missense variant C/T snv 1.0E-02 1.1E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1999 1999