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: 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: 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: 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: 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: 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: 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
dbSNP: rs1437378430
rs1437378430 		1.000 0.080 8 26748597 missense variant G/A snv 1.0E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs17055869
rs17055869 		1.000 0.040 8 26740131 intergenic variant C/A;T snv
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs558845106
rs558845106 		8 26770370 missense variant C/A;T snv 3.7E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs574584
rs574584 		8 26866167 intron variant C/G;T snv
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2009 2009
dbSNP: rs747894155
rs747894155 		1.000 0.080 8 26770171 missense variant C/A;T snv 4.6E-06
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs753725490
rs753725490 		1.000 0.080 8 26864272 missense variant G/A snv 4.0E-06
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 2012 2012
dbSNP: rs757196717
rs757196717 		0.925 0.040 8 26770273 missense variant C/G;T snv 4.0E-06
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs757196717
rs757196717 		0.925 0.040 8 26770273 missense variant C/G;T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs757286802
rs757286802 		1.000 0.040 8 26864276 missense variant C/A snv 8.0E-06
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs758801521
rs758801521 		0.882 0.160 8 26770618 missense variant A/G snv 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs758801521
rs758801521 		0.882 0.160 8 26770618 missense variant A/G snv 4.0E-06
CUI: C0264657
Disease: Renal sclerosis with hypertension
Renal sclerosis with hypertension 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009