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: rs1801708
rs1801708 		0.925 0.160 4 147481217 5 prime UTR variant G/A snv 0.46
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1801708
rs1801708 		0.925 0.160 4 147481217 5 prime UTR variant G/A snv 0.46
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs200016399
rs200016399 		1.000 0.040 4 147535988 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs200945454
rs200945454 		0.925 0.040 4 147542593 missense variant G/A;C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs200945454
rs200945454 		0.925 0.040 4 147542593 missense variant G/A;C snv
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2048894
rs2048894 		1.000 0.040 4 147530682 intron variant G/A snv 0.35
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5333
rs5333 		0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5333
rs5333 		0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5333
rs5333 		0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C1275047
Disease: Radiation-induced xerostomia
Radiation-induced xerostomia 		Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5333
rs5333 		0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5333
rs5333 		0.827 0.280 4 147539885 synonymous variant T/C snv 0.28 0.34
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs5335
rs5335 		0.925 0.120 4 147542688 3 prime UTR variant G/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5335
rs5335 		0.925 0.120 4 147542688 3 prime UTR variant G/A;C snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5335
rs5335 		0.925 0.120 4 147542688 3 prime UTR variant G/A;C snv
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6827096
rs6827096 		4 147514294 intron variant C/T snv 0.30
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2020 2020
dbSNP: rs749137757
rs749137757 		0.925 0.080 4 147540465 missense variant A/G snv 4.1E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs763015080
rs763015080 		0.851 0.120 4 147539821 missense variant G/A snv 4.1E-06
CUI: C0153405
Disease: Malignant neoplasm of pharynx
Malignant neoplasm of pharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs763015080
rs763015080 		0.851 0.120 4 147539821 missense variant G/A snv 4.1E-06
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs763015080
rs763015080 		0.851 0.120 4 147539821 missense variant G/A snv 4.1E-06
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs763015080
rs763015080 		0.851 0.120 4 147539821 missense variant G/A snv 4.1E-06
CUI: C0747548
Disease: Pharyngeal Carcinoma
Pharyngeal Carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs771470596
rs771470596 		0.882 0.200 4 147539919 missense variant G/A;C snv 1.6E-05
CUI: C0003128
Disease: Anovulation
Anovulation 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs771470596
rs771470596 		0.882 0.200 4 147539919 missense variant G/A;C snv 1.6E-05
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs771470596
rs771470596 		0.882 0.200 4 147539919 missense variant G/A;C snv 1.6E-05
CUI: C1862151
Disease: BRACHYDACTYLY, TYPE A1 (disorder)
BRACHYDACTYLY, TYPE A1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs771470596
rs771470596 		0.882 0.200 4 147539919 missense variant G/A;C snv 1.6E-05
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs777240969
rs777240969 		4 147532621 missense variant A/G snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011