ADRA1A, adrenoceptor alpha 1A, 148

N. diseases: 294; N. variants: 30
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: rs6987037
rs6987037 		8 26819000 intron variant C/T snv 3.0E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6987037
rs6987037 		8 26819000 intron variant C/T snv 3.0E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1310063298
rs1310063298 		1.000 0.080 8 26864701 missense variant C/A snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.030 1.000 3 2013 2017
dbSNP: rs758801521
rs758801521 		0.882 0.160 8 26770618 missense variant A/G snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.030 1.000 3 2006 2015
dbSNP: rs1310063298
rs1310063298 		1.000 0.080 8 26864701 missense variant C/A snv 4.0E-06
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2017 2017
dbSNP: rs1393259836
rs1393259836 		0.925 0.080 8 26748670 frameshift variant TT/- del
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: rs758801521
rs758801521 		0.882 0.160 8 26770618 missense variant A/G snv 4.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2010 2016
dbSNP: rs1037610094
rs1037610094 		1.000 0.080 8 26864491 missense variant C/G;T snv 1.6E-05; 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1048101
rs1048101 		0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1048101
rs1048101 		0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1048101
rs1048101 		0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56
CUI: C3496069
Disease: cocaine use
cocaine use 		0.010 1.000 1 2013 2013
dbSNP: rs1048101
rs1048101 		0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56
CUI: C0042571
Disease: Vertigo
Vertigo 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1048101
rs1048101 		0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56
CUI: C0042420
Disease: Vasovagal syncope
Vasovagal syncope 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1218686921
rs1218686921 		0.925 0.080 8 26864152 missense variant G/A snv
CUI: C3875046
Disease: Partial nephrogenic diabetes insipidus
Partial nephrogenic diabetes insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1218686921
rs1218686921 		0.925 0.080 8 26864152 missense variant G/A snv
CUI: C1563705
Disease: Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type I 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1252993409
rs1252993409 		8 26864323 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1281091213
rs1281091213 		1.000 0.040 8 26864578 missense variant G/A;T snv
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1374914304
rs1374914304 		1.000 0.080 8 26748678 missense variant G/A snv 5.7E-05 2.1E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1377173003
rs1377173003 		1.000 0.040 8 26770258 missense variant T/C snv 8.0E-06
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1383914
rs1383914 		1.000 0.080 8 26865532 5 prime UTR variant T/C snv 0.47
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1393259836
rs1393259836 		0.925 0.080 8 26748670 frameshift variant TT/- del
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1398632391
rs1398632391 		1.000 0.080 8 26748734 synonymous variant A/G snv 7.8E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1403821912
rs1403821912 		1.000 0.040 8 26864422 missense variant C/T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1431648262
rs1431648262 		8 26756585 3 prime UTR variant G/C snv 1.2E-05
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1431648262
rs1431648262 		8 26756585 3 prime UTR variant G/C snv 1.2E-05
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014