EDNRA, endothelin receptor type A, 1909

N. diseases: 427; N. variants: 29
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: rs6842241
rs6842241 		0.925 0.080 4 147479667 upstream gene variant C/A snv 0.22
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 1 2012 2012
dbSNP: rs786205230
rs786205230 		1.000 4 147486067 missense variant A/G;T snv
CUI: C4225349
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 		0.810 1.000 1 2015 2015
dbSNP: rs6841581
rs6841581 		0.882 0.080 4 147480038 upstream gene variant G/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.800 1.000 3 2013 2018
dbSNP: rs876657388
rs876657388 		0.925 0.240 4 147539823 missense variant G/A snv
CUI: C4225349
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 		0.800 1.000 1 2015 2015
dbSNP: rs10305916
rs10305916 		4 147536174 intron variant T/G snv 0.21
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs10305923
rs10305923 		4 147539622 intron variant T/C snv 2.1E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs13143677
rs13143677 		4 147497888 intron variant G/A snv 0.41
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs6822565
rs6822565 		0.882 0.120 4 147516360 intron variant T/C snv 0.42
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs6822565
rs6822565 		0.882 0.120 4 147516360 intron variant T/C snv 0.42
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6822565
rs6822565 		0.882 0.120 4 147516360 intron variant T/C snv 0.42
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs6841581
rs6841581 		0.882 0.080 4 147480038 upstream gene variant G/A;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs6841581
rs6841581 		0.882 0.080 4 147480038 upstream gene variant G/A;T snv
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6842241
rs6842241 		0.925 0.080 4 147479667 upstream gene variant C/A snv 0.22
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs6842241
rs6842241 		0.925 0.080 4 147479667 upstream gene variant C/A snv 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1224900173
rs1224900173 		1.000 0.040 4 147519933 missense variant C/T snv 4.0E-06
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.030 1.000 3 2003 2008
dbSNP: rs1462059537
rs1462059537 		0.882 0.160 4 147535944 missense variant C/T snv 8.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 2006 2015
dbSNP: rs867770797
rs867770797 		0.851 0.200 4 147519875 missense variant G/A snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.030 1.000 3 2001 2011
dbSNP: rs1278609613
rs1278609613 		1.000 0.040 4 147542604 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.020 1.000 2 2009 2018
dbSNP: rs1462059537
rs1462059537 		0.882 0.160 4 147535944 missense variant C/T snv 8.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2010 2016
dbSNP: rs6841581
rs6841581 		0.882 0.080 4 147480038 upstream gene variant G/A;T snv
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2011 2019
dbSNP: rs749137757
rs749137757 		0.925 0.080 4 147540465 missense variant A/G snv 4.1E-06
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2006 2010
dbSNP: rs1258130495
rs1258130495 		0.882 0.040 4 147485727 missense variant G/A snv
CUI: C0264716
Disease: Chronic heart failure
Chronic heart failure 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1258130495
rs1258130495 		0.882 0.040 4 147485727 missense variant G/A snv
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1258130495
rs1258130495 		0.882 0.040 4 147485727 missense variant G/A snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1363196459
rs1363196459 		0.882 0.040 4 147486001 missense variant A/G snv 4.0E-06
CUI: C2874202
Disease: Constitutional delay of puberty
Constitutional delay of puberty 		0.010 1.000 1 2010 2010