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: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10478730
rs10478730 		6 12297276 downstream gene variant C/T snv 1.2E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1800541
rs1800541 		0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs1800541
rs1800541 		0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs1800541
rs1800541 		0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.020 0.500 2 2013 2014
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.020 0.500 2 2013 2014
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.020 0.500 2 2013 2014
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs1800541
rs1800541 		0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2070699
rs2070699 		0.752 0.080 6 12292539 intron variant G/C;T snv 0.45
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C1852242
Disease: Nonarteritic anterior ischemic optic neuropathy (NAION)
Nonarteritic anterior ischemic optic neuropathy (NAION) 		0.010 1.000 1 2013 2013
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs587777231
rs587777231 		1.000 6 12293978 missense variant A/G snv
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3 		0.800 1.000 1 2013 2013
dbSNP: rs587777232
rs587777232 		1.000 6 12292506 missense variant C/A snv
CUI: C3810332
Disease: AURICULOCONDYLAR SYNDROME 3
AURICULOCONDYLAR SYNDROME 3 		0.800 1.000 1 2013 2013
dbSNP: rs587777233
rs587777233 		1.000 6 12292467 missense variant T/A snv
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.800 1.000 1 2013 2013
dbSNP: rs149399492
rs149399492 		1.000 0.040 6 12292395 missense variant C/A;G;T snv 5.6E-05; 2.0E-05; 3.1E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs150035515
rs150035515 		1.000 0.040 6 12292366 synonymous variant G/A;T snv 7.0E-04; 5.2E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3087459
rs3087459 		0.925 0.160 6 12289406 upstream gene variant A/C snv 0.20
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2014 2014