HNMT, histamine N-methyltransferase, 3176

N. diseases: 98; N. variants: 5
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: rs745756308
rs745756308 		1.000 2 138013874 missense variant T/C snv 4.0E-06
CUI: C4225220
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 		0.800 0
dbSNP: rs758252808
rs758252808 		1.000 2 137970206 missense variant G/A snv 4.1E-06
CUI: C4225220
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 		0.800 0
dbSNP: rs3791244
rs3791244 		1.000 0.080 2 137974195 intron variant G/A snv 0.12
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C1869116
Disease: ASTHMA, SUSCEPTIBILITY TO (finding)
ASTHMA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.070 0.857 7 2008 2017
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.030 1.000 3 2005 2011
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.030 0.667 3 2005 2011
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.020 1.000 2 2008 2010
dbSNP: rs745756308
rs745756308 		1.000 2 138013874 missense variant T/C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.020 1.000 2 2015 2017
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0860602
Disease: Anxious personality
Anxious personality 		Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0263338
Disease: Chronic urticaria
Chronic urticaria 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs11558538
rs11558538 		0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1373976132
rs1373976132 		1.000 0.120 2 137964586 missense variant T/C snv 4.0E-06
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs758252808
rs758252808 		1.000 2 137970206 missense variant G/A snv 4.1E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017