HTR2B, 5-hydroxytryptamine receptor 2B, 3357

N. diseases: 61; N. variants: 4
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: rs6736017
rs6736017 		2 231108702 missense variant T/C snv 6.3E-03 2.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6736017
rs6736017 		2 231108702 missense variant T/C snv 6.3E-03 2.5E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6736017
rs6736017 		2 231108702 missense variant T/C snv 6.3E-03 2.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs79874540
rs79874540 		0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.020 1.000 2 2015 2017
dbSNP: rs10194776
rs10194776 		2 231115305 intron variant C/T snv 0.54
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 2014 2014
dbSNP: rs16827801
rs16827801 		2 231116063 intron variant A/C;G snv 0.40
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 2014 2014
dbSNP: rs6736017
rs6736017 		2 231108702 missense variant T/C snv 6.3E-03 2.5E-02
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2019 2019
dbSNP: rs79874540
rs79874540 		0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs79874540
rs79874540 		0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03
CUI: C0564567
Disease: Impulsive character (finding)
Impulsive character (finding) 		0.010 1.000 1 2015 2015
dbSNP: rs79874540
rs79874540 		0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03
CUI: C0003431
Disease: Antisocial Personality Disorder
Antisocial Personality Disorder 		Mental Disorders 0.010 1.000 1 2016 2016