chr13:47469940:G>A Detail (hg19) (HTR2A)

Information

Genome

Assembly Position
hg19 chr13:47,469,940-47,469,940
hg38 chr13:46,895,805-46,895,805 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000621.4:c.102C>T NP_000612.1:p.Ser34=
NM_001165947.2:c.-78+869C>T
Ensemble ENST00000542664.4:c.102C>T ENST00000542664.4:p.Ser34=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.520
ToMMo:0.513
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.583

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 182135 OMIM
HGNC 5293 HGNC
Ensembl ENSG00000102468 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48541722 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2018-03-09 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.011 Unipolar Depression Six polymorphisms in four genes related to the serotonin system, including the H... BeFree 19897250 Detail
0.040 major depressive disorder Six polymorphisms in four genes related to the serotonin system, including the H... BeFree 19897250 Detail
0.233 major depressive disorder Six polymorphisms in four genes related to the serotonin system, including the H... BeFree 19897250 Detail
0.011 Unipolar Depression Six polymorphisms in four genes related to the serotonin system, including the H... BeFree 19897250 Detail
0.155 major depressive disorder Six polymorphisms in four genes related to the serotonin system, including the H... BeFree 19897250 Detail
0.038 Unipolar Depression Six polymorphisms in four genes related to the serotonin system, including the H... BeFree 19897250 Detail
0.127 major depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.082 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.026 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.002 Unipolar Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.013 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.006 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.088 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.018 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.087 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.002 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.003 major depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.004 Unipolar Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.020 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.009 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.033 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.006 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.038 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.009 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.043 Mental Depression To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.007 depressive disorder To investigate the possible relationship between genetic risk factors and depres... BeFree 23157339 Detail
0.011 Unipolar Depression In this study, we evaluated the association of seven serotonin signal transducti... BeFree 19590397 Detail
0.155 major depressive disorder In this study, we evaluated the association of seven serotonin signal transducti... BeFree 19590397 Detail
0.291 schizophrenia Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... BeFree 15802092 Detail
0.329 attention deficit hyperactivity disorder Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... BeFree 15802092 Detail
0.155 attention deficit hyperactivity disorder Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... BeFree 15802092 Detail
0.029 attention deficit hyperactivity disorder Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... BeFree 15802092 Detail
0.341 schizophrenia Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... BeFree 15802092 Detail
0.155 major depressive disorder Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is prim... BeFree 10686553 Detail
<0.001 schizophrenia While further research into the molecular mechanisms underlying this interaction... BeFree 19352591 Detail
0.002 PANIC DISORDER 1 The authors tested for association of the 5-HT2A receptor polymorphism (T102C) a... BeFree 11444684 Detail
0.146 Alcoholic Intoxication, Chronic However, the potential association between the T102C polymorphism (rs6313) in th... BeFree 23321485 Detail
0.341 schizophrenia Hypomethylation of the serotonin receptor type-2A Gene (HTR2A) at T102C polymorp... BeFree 21598376 Detail
0.049 Mental Depression The aim of this study was to investigate the role of serotonin in depression, se... BeFree 17183148 Detail
0.006 Cerebrovascular accident Taken together, this study indicates that the 102T/C polymorphism in the 5-HT2A ... BeFree 17401157 Detail
0.011 Depressive Symptoms The aim of this study was to investigate the role of serotonin in depression, se... BeFree 17183148 Detail
0.341 schizophrenia Could HTR2A T102C and DRD3 Ser9Gly predict clinical improvement in patients with... BeFree 17924589 Detail
0.088 depressive disorder Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is prim... BeFree 11727894 Detail
0.002 PANIC DISORDER 1 No significant transmission disequilibrium was observed between the alleles of t... BeFree 15182959 Detail
0.282 depressive disorder Associations between suicidal ideation and 5-HTTLPR, STin2 VNTR, 5-HTR2a 1438A/G... BeFree 23973249 Detail
0.232 bipolar disorder Differential expression and parent-of-origin effect of the 5-HT2A receptor gene ... BeFree 17221840 Detail
0.141 obsessive-compulsive disorder The purpose of this study is to investigate the association between four seroton... BeFree 18191318 Detail
<0.001 Delusions Delusion symptoms and response to antipsychotic treatment are associated with th... BeFree 19494443 Detail
0.155 Mental Depression Associations between suicidal ideation and 5-HTTLPR, STin2 VNTR, 5-HTR2a 1438A/G... BeFree 23973249 Detail
0.155 major depressive disorder Association of HTR2A T102C and A-1438G polymorphisms with susceptibility to majo... BeFree 25270656 Detail
0.020 schizophrenia While further research into the molecular mechanisms underlying this interaction... BeFree 19352591 Detail
0.155 major depressive disorder Patients with major depression who had recently attempted suicide (n=191) and co... BeFree 18502553 Detail
0.043 Mental Depression Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is prim... BeFree 11727894 Detail
0.043 Mental Depression The aim of this study is to investigate whether there were any association betwe... BeFree 15232358 Detail
0.146 Alcoholic Intoxication, Chronic T102C polymorphism of the serotonin receptor 2A gene (5-HT2A) has been shown to ... BeFree 17713649 Detail
0.136 Psychotic Disorders No association between the 5-HT2A C102T polymorphism and suicidal behavior in ma... BeFree 17221840 Detail
0.004 fibromyalgia This meta-analysis demonstrates that the 5-HT2A receptor 102T/C polymorphism con... BeFree 21120487 Detail
0.341 schizophrenia Recent studies have also shown an association between the allele C of 102T/C pol... BeFree 10686553 Detail
0.009 dementia The aim of this study was to investigate the association of a serotonin transpor... BeFree 15000807 Detail
0.004 fibromyalgia Association of T102C polymorphism of the 5-HT2A receptor gene with psychiatric s... BeFree 11732859 Detail
0.155 major depressive disorder Additional evidence for a role of serotonin (5-HT) in the pathogenesis of suicid... BeFree 15469201 Detail
0.011 Unipolar Depression Patients with major depression who had recently attempted suicide (n=191) and co... BeFree 18502553 Detail
0.141 obsessive-compulsive disorder T102C and -1438 G/A polymorphisms of the 5-HT2A receptor gene in Turkish patient... BeFree 12927326 Detail
0.020 panic disorder No significant transmission disequilibrium was observed between the alleles of t... BeFree 15182959 Detail
0.141 obsessive-compulsive disorder Both genotypic and allelic distributions of the 5-HT receptor 2A (5-HT2A) T102C ... BeFree 16910371 Detail
<0.001 generalized anxiety disorder The authors tested for association of the 5-HT2A receptor polymorphism (T102C) a... BeFree 11444684 Detail
0.341 schizophrenia Negative association between T102C polymorphism of the 5-HT2a receptor gene and ... BeFree 9694252 Detail
0.005 Sleep Apnea, Obstructive Genotypes and allele frequencies of 102T/C polymorphism of the HTR2A and 796G/C ... BeFree 16258205 Detail
0.232 bipolar disorder There was no genetic association between HTR2A T102C with either schizophrenia o... BeFree 17407792 Detail
0.020 panic disorder The authors tested for association of the 5-HT2A receptor polymorphism (T102C) a... BeFree 11444684 Detail
<0.001 Ichthyosis bullosa of Siemens This study suggests that the patients with homozygote C allele of the 102 T/C po... BeFree 15232358 Detail
0.011 Unipolar Depression Association of the T102C polymorphism in the HTR2A gene with major depressive di... BeFree 24962835 Detail
<0.001 Presenile dementia The strong and robust positive association that was noted between the C allele o... BeFree 19910872 Detail
0.341 schizophrenia Recent studies suggest that the 5-hydroxytryptamine receptor 2A (5-HT2A) gene (H... BeFree 15882132 Detail
0.001 acute myocardial infarction T102C polymorphism of the serotonin (5-HT) 2A receptor gene in patients with non... BeFree 10781645 Detail
0.341 schizophrenia This study investigated whether the efficacy of aripiprazole can be predicted by... BeFree 19387614 Detail
0.028 Alzheimer's disease Prediction of psychosis onset in Alzheimer disease: the role of depression sympt... BeFree 17525976 Detail
0.002 Psychotic symptom In a 3-year follow-up study, we evaluated the association of serotonin (5-HT) re... BeFree 19494443 Detail
0.016 depressive disorder The aim of this study was to investigate the role of serotonin in depression, se... BeFree 17183148 Detail
0.341 schizophrenia Our results suggest that the HTR2A T102C polymorphism may confer susceptibility ... BeFree 23857788 Detail
0.011 Unipolar Depression Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is prim... BeFree 10686553 Detail
<0.001 dementia The aim of this study was to investigate the association of a serotonin transpor... BeFree 15000807 Detail
0.038 Migraine Disorders Association analysis of 5-HTTLPR variants, 5-HT2a receptor gene 102T/C polymorph... BeFree 14668201 Detail
0.341 schizophrenia Forty-nine patients, with schizophrenia or schizoaffective disorder and treated ... BeFree 20521326 Detail
0.155 major depressive disorder Many studies investigated the association between MDD and BD with the 5-HT2A 102... BeFree 12851635 Detail
0.011 Unipolar Depression The serotonin 2A (5-HT2A) receptor gene has been implicated in the pathogenesis ... BeFree 17221840 Detail
<0.001 cystic fibrosis Polymorphisms in the HTR2A (T102C), beta-globin [hemoglobin (Hb) S, C, and E], a... BeFree 12600951 Detail
0.011 Unipolar Depression Accordingly, two single nucleotide polymorphisms of the HTR2A gene (rs6314 ie Hi... BeFree 24801750 Detail
0.020 panic disorder This result suggests that 5HTR2A 1438A/G and 102T/C polymorphic regions can be a... BeFree 18436425 Detail
0.264 schizophrenia Could HTR2A T102C and DRD3 Ser9Gly predict clinical improvement in patients with... BeFree 17924589 Detail
0.155 major depressive disorder Accordingly, two single nucleotide polymorphisms of the HTR2A gene (rs6314 ie Hi... BeFree 24801750 Detail
0.017 Mood Disorders Negative association between T102C polymorphism at the 5-HT2A receptor gene and ... BeFree 10802129 Detail
0.002 Depressive Symptoms This study suggests a mechanism for the generation of different neuropsychiatric... BeFree 17481814 Detail
0.005 Mental disorders These preliminary data suggest that the T102C 5-HT2a receptor polymorphism may b... BeFree 11920859 Detail
0.011 Unipolar Depression Many studies investigated the association between MDD and BD with the 5-HT2A 102... BeFree 12851635 Detail
0.004 Psychotic symptom The aim of this study was to investigate the association of a serotonin transpor... BeFree 15000807 Detail
0.011 Unipolar Depression Association of HTR2A T102C and A-1438G polymorphisms with susceptibility to majo... BeFree 25270656 Detail
0.016 Hypertensive disease Thus, the present study suggests that the 5-HT2A T102C and ET-1 G/T polymorphism... BeFree 16778329 Detail
0.341 schizophrenia We performed primer extension assays to measure relative expression of allele-sp... BeFree 17069769 Detail
0.232 bipolar disorder Many studies investigated the association between MDD and BD with the 5-HT2A 102... BeFree 12851635 Detail
0.003 irritable bowel syndrome Association of the -1438 G/A and 102 T/C polymorphism of the 5-Ht2A receptor gen... BeFree 15232358 Detail
0.341 schizophrenia Association between T102C and A-1438G polymorphisms in the serotonin receptor 2A... BeFree 17617023 Detail
0.341 schizophrenia There was no genetic association between HTR2A T102C with either schizophrenia o... BeFree 17407792 Detail
0.088 depressive disorder The aim of this study is to investigate whether there were any association betwe... BeFree 15232358 Detail
<0.001 Presenile dementia The aim of this study was to investigate the association of a serotonin transpor... BeFree 15000807 Detail
0.136 Psychotic Disorders Parent-of-origin effect and genomic imprinting of the HTR2A receptor gene T102C ... BeFree 17407792 Detail
0.021 Depressive Symptoms The aim of this study was to investigate the role of serotonin in depression, se... BeFree 17183148 Detail
0.341 schizophrenia We have recently shown that the linked serotonin-2A receptor (5-HT(2A)R) A-1438 ... BeFree 19545856 Detail
<0.001 bronchopulmonary dysplasia A number of studies have assessed a relationship between the T102C polymorphism ... BeFree 24962835 Detail
<0.001 Mild cognitive disorder Subjects with possible or probable AD or mild cognitive impairment (MCI) without... BeFree 17525976 Detail
0.155 major depressive disorder Association of the T102C polymorphism in the HTR2A gene with major depressive di... BeFree 24962835 Detail
0.128 Migraine Disorders Association analysis of 5-HTTLPR variants, 5-HT2a receptor gene 102T/C polymorph... BeFree 14668201 Detail
0.136 Psychotic Disorders No significant differences in the distribution of allele and genotype frequencie... BeFree 17614196 Detail
0.001 borderline personality disorder A number of studies have assessed a relationship between the T102C polymorphism ... BeFree 24962835 Detail
0.017 Mood Disorders The serotonin 2A (5-HT2A) receptor gene has been implicated in the pathogenesis ... BeFree 18783799 Detail
0.155 major depressive disorder Moreover, no overall associations are detected when patients with major depressi... BeFree 11803534 Detail
0.003 Nonorganic psychosis No significant differences in the distribution of allele and genotype frequencie... BeFree 17614196 Detail
<0.001 Drug habituation Our findings suggest that PPI and habituation are modulated by 5-HT(2A)R A-1438G... BeFree 18420180 Detail
0.007 Sleep Apnea, Obstructive Association between the -1438G/A and T102C polymorphisms of 5-HT2A receptor gene... BeFree 24065538 Detail
0.029 Psychotic Disorders No significant differences in the distribution of allele and genotype frequencie... BeFree 17614196 Detail
0.155 major depressive disorder Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is prim... BeFree 11727894 Detail
0.002 PANIC DISORDER 1 This result suggests that 5HTR2A 1438A/G and 102T/C polymorphic regions can be a... BeFree 18436425 Detail
0.002 Depressive Symptoms The aim of this study was to investigate the role of serotonin in depression, se... BeFree 17183148 Detail
0.088 depressive disorder The aim of this study was to investigate the role of serotonin in depression, se... BeFree 17183148 Detail
0.341 schizophrenia Recently, a 5-HT2A receptor gene T102C polymorphism has been reported to be asso... BeFree 10781645 Detail
0.128 Migraine Disorders Association of the T102C polymorphism of 5-HT2A receptor gene with aura in migra... BeFree 11489292 Detail
0.155 major depressive disorder The serotonin 2A (5-HT2A) receptor gene has been implicated in the pathogenesis ... BeFree 17221840 Detail
<0.001 essential hypertension T102C polymorphism of the serotonin receptor 2A gene (5-HT2A) has been shown to ... BeFree 17713649 Detail
0.088 depressive disorder Associations between suicidal ideation and 5-HTTLPR, STin2 VNTR, 5-HTR2a 1438A/G... BeFree 23973249 Detail
<0.001 Gambling, Pathological A significant association of the C/C genotype of the serotonin receptor 2A T102C... BeFree 22740152 Detail
<0.001 schizoaffective disorder Forty-nine patients, with schizophrenia or schizoaffective disorder and treated ... BeFree 20521326 Detail
0.002 schizophrenia Forty-nine patients, with schizophrenia or schizoaffective disorder and treated ... BeFree 20521326 Detail
0.011 Unipolar Depression Recent studies have shown an association of allele C of the 5-HT2A-T102C polymor... BeFree 11121191 Detail
0.003 Gilles de la Tourette syndrome As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in G... BeFree 20010450 Detail
0.341 schizophrenia Differential expression and parent-of-origin effect of the 5-HT2A receptor gene ... BeFree 17221840 Detail
0.136 Psychotic Disorders Prediction of psychosis onset in Alzheimer disease: the role of depression sympt... BeFree 17525976 Detail
0.043 Mental Depression Associations between suicidal ideation and 5-HTTLPR, STin2 VNTR, 5-HTR2a 1438A/G... BeFree 23973249 Detail
<0.001 essential hypertension Association study of the 5-HT(2A) receptor gene polymorphism, T102C and essentia... BeFree 11378836 Detail
<0.001 Ischemic Cerebrovascular Accident Association of the 5-HT2A receptor gene polymorphism 102T/C with ischemic stroke... BeFree 17401157 Detail
0.341 schizophrenia The serotonin 2A (5-HT2A) receptor gene has been implicated in the pathogenesis ... BeFree 18783799 Detail
0.003 Nonorganic psychosis No significant differences in the distribution of allele and genotype frequencie... BeFree 17614196 Detail
0.155 major depressive disorder Recent studies have shown an association of allele C of the 5-HT2A-T102C polymor... BeFree 11121191 Detail
0.003 osteochondritis dissecans The purpose of this study is to investigate the association between four seroton... BeFree 18191318 Detail
0.341 schizophrenia No association or linkage between the 5-HT2a/T102C polymorphism and schizophreni... BeFree 9259371 Detail
0.004 fibromyalgia Influence of the interaction between environmental quality and T102C SNP in the ... BeFree 22124593 Detail
0.136 Psychotic Disorders The strong and robust positive association that was noted between the C allele o... BeFree 19910872 Detail
<0.001 Inattention Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T10... BeFree 16362639 Detail
0.001 Presenile dementia The aim of this study was to investigate the association of a serotonin transpor... BeFree 15000807 Detail
0.341 schizophrenia While further research into the molecular mechanisms underlying this interaction... BeFree 19352591 Detail
0.002 Depressive Symptoms Prediction of psychosis onset in Alzheimer disease: the role of depression sympt... BeFree 17525976 Detail
<0.001 schizophrenia While further research into the molecular mechanisms underlying this interaction... BeFree 19352591 Detail
0.001 acute myocardial infarction T102C polymorphism of the serotonin receptor 2A gene (5-HT2A) has been shown to ... BeFree 17713649 Detail
<0.001 Hallucinations This study suggests a mechanism for the generation of different neuropsychiatric... BeFree 17481814 Detail
0.011 Unipolar Depression Additional evidence for a role of serotonin (5-HT) in the pathogenesis of suicid... BeFree 15469201 Detail
0.004 fibromyalgia The T102C polymorphism of the 5-HT2A-receptor gene in fibromyalgia. BeFree 10527809 Detail
0.007 Sleep Apnea, Obstructive Genotypes and allele frequencies of 102T/C polymorphism of the HTR2A and 796G/C ... BeFree 16258205 Detail
0.232 bipolar disorder Hypomethylation of the serotonin receptor type-2A Gene (HTR2A) at T102C polymorp... BeFree 21598376 Detail
0.003 Nonorganic psychosis Parent-of-origin effect and genomic imprinting of the HTR2A receptor gene T102C ... BeFree 17407792 Detail
0.341 schizophrenia Supportive evidence for the association between the T102C 5-HTR2A gene polymorph... BeFree 17240119 Detail
0.341 schizophrenia 102T/C SNP in the 5-hydroxytryptamine receptor 2A (HTR2A) gene and schizophrenia... BeFree 15048642 Detail
0.003 nicotine dependence The polymorphism in HTR2A (102T/C, -1438A/G) was identified by means of the poly... BeFree 15564892 Detail
0.341 schizophrenia No association of the T102C polymorphism of the serotonin 2A receptor gene (HTR2... BeFree 15469201 Detail
<0.001 schizoaffective disorder The goal of the present study was to test the association of allele C of T102C H... BeFree 15469201 Detail
0.005 Gilles de la Tourette syndrome As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in G... BeFree 20010450 Detail
0.341 schizophrenia Our data do not support an allelic association between the 102T/C polymorphism o... BeFree 9264136 Detail
0.146 Alcoholic Intoxication, Chronic The results suggest a potential role of the T102C HTR2A polymorphism in developm... BeFree 22661198 Detail
0.341 schizophrenia The aim of the study was to investigate whether the 5-HT2A receptor gene's polym... BeFree 21912188 Detail
0.341 schizophrenia Association of the T102C polymorphism in the HTR2A gene with major depressive di... BeFree 24962835 Detail
0.011 Unipolar Depression Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is prim... BeFree 11727894 Detail
0.003 osteochondritis dissecans Both genotypic and allelic distributions of the 5-HT receptor 2A (5-HT2A) T102C ... BeFree 16910371 Detail
0.003 Nonorganic psychosis Prediction of psychosis onset in Alzheimer disease: the role of depression sympt... BeFree 17525976 Detail
<0.001 Ischemic stroke Association of the 5-HT2A receptor gene polymorphism 102T/C with ischemic stroke... BeFree 17401157 Detail
0.005 Gilles de la Tourette syndrome As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in G... BeFree 20010450 Detail
<0.001 dementia The strong and robust positive association that was noted between the C allele o... BeFree 19910872 Detail
0.011 Unipolar Depression Moreover, no overall associations are detected when patients with major depressi... BeFree 11803534 Detail
0.043 Mental Depression The aim of this study was to investigate the role of serotonin in depression, se... BeFree 17183148 Detail
0.016 Hypertensive disease This data indicates that the T102C polymorphism in the 5-HT(2A) gene might be an... BeFree 11378836 Detail
0.003 Nonorganic psychosis The strong and robust positive association that was noted between the C allele o... BeFree 19910872 Detail
0.016 Hypertensive disease In the present study, we investigated the T102C genetic polymorphism of 5-HT(2A)... BeFree 15659047 Detail
0.004 fibromyalgia The objective of this study was to determine the potential effects of single nuc... BeFree 18196244 Detail
<0.001 Melancholia About 62% of patients exhibiting the allelic combination of GG-GG-TT for rs6265,... BeFree 25769916 Detail
0.043 Mental Depression 5-HT2A receptor gene polymorphism rs6313 was associated with 5-HT2A receptor bin... BeFree 18801406 Detail
0.341 schizophrenia We detected 7 single nucleotide polymorphisms (SNPs) on 13q14, one (rs6313) pres... BeFree 15882913 Detail
<0.001 Sleep Bruxism This analysis revealed that only the C allele carrier of HTR2A single nucleotide... BeFree 22545912 Detail
0.088 depressive disorder 5-HT2A receptor gene polymorphism rs6313 was associated with 5-HT2A receptor bin... BeFree 18801406 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000621.5(HTR2A):c.102C>T (p.Ser34=) AND not specified ClinVar Detail
Six polymorphisms in four genes related to the serotonin system, including the HTTLPR and HTTVNTR in... DisGeNET Detail
Six polymorphisms in four genes related to the serotonin system, including the HTTLPR and HTTVNTR in... DisGeNET Detail
Six polymorphisms in four genes related to the serotonin system, including the HTTLPR and HTTVNTR in... DisGeNET Detail
Six polymorphisms in four genes related to the serotonin system, including the HTTLPR and HTTVNTR in... DisGeNET Detail
Six polymorphisms in four genes related to the serotonin system, including the HTTLPR and HTTVNTR in... DisGeNET Detail
Six polymorphisms in four genes related to the serotonin system, including the HTTLPR and HTTVNTR in... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
To investigate the possible relationship between genetic risk factors and depression in AD, we asses... DisGeNET Detail
In this study, we evaluated the association of seven serotonin signal transduction-linked single nuc... DisGeNET Detail
In this study, we evaluated the association of seven serotonin signal transduction-linked single nuc... DisGeNET Detail
Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... DisGeNET Detail
Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... DisGeNET Detail
Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... DisGeNET Detail
Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... DisGeNET Detail
Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... DisGeNET Detail
Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is primarily associated wit... DisGeNET Detail
While further research into the molecular mechanisms underlying this interaction is needed, our resu... DisGeNET Detail
The authors tested for association of the 5-HT2A receptor polymorphism (T102C) and the intron 7 tryp... DisGeNET Detail
However, the potential association between the T102C polymorphism (rs6313) in the type 2A serotonin ... DisGeNET Detail
Hypomethylation of the serotonin receptor type-2A Gene (HTR2A) at T102C polymorphic site in DNA deri... DisGeNET Detail
The aim of this study was to investigate the role of serotonin in depression, searching for associat... DisGeNET Detail
Taken together, this study indicates that the 102T/C polymorphism in the 5-HT2A receptor gene could ... DisGeNET Detail
The aim of this study was to investigate the role of serotonin in depression, searching for associat... DisGeNET Detail
Could HTR2A T102C and DRD3 Ser9Gly predict clinical improvement in patients with acutely exacerbated... DisGeNET Detail
Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is primarily associated wit... DisGeNET Detail
No significant transmission disequilibrium was observed between the alleles of the T102C 5-HT2A rece... DisGeNET Detail
Associations between suicidal ideation and 5-HTTLPR, STin2 VNTR, 5-HTR2a 1438A/G, and 5-HTR2a 102T/C... DisGeNET Detail
Differential expression and parent-of-origin effect of the 5-HT2A receptor gene C102T polymorphism: ... DisGeNET Detail
The purpose of this study is to investigate the association between four serotonergic polymorphisms ... DisGeNET Detail
Delusion symptoms and response to antipsychotic treatment are associated with the 5-HT2A receptor po... DisGeNET Detail
Associations between suicidal ideation and 5-HTTLPR, STin2 VNTR, 5-HTR2a 1438A/G, and 5-HTR2a 102T/C... DisGeNET Detail
Association of HTR2A T102C and A-1438G polymorphisms with susceptibility to major depressive disorde... DisGeNET Detail
While further research into the molecular mechanisms underlying this interaction is needed, our resu... DisGeNET Detail
Patients with major depression who had recently attempted suicide (n=191) and control subjects (n=19... DisGeNET Detail
Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is primarily associated wit... DisGeNET Detail
The aim of this study is to investigate whether there were any association between the 102 T/C and -... DisGeNET Detail
T102C polymorphism of the serotonin receptor 2A gene (5-HT2A) has been shown to be associated with c... DisGeNET Detail
No association between the 5-HT2A C102T polymorphism and suicidal behavior in major psychoses was de... DisGeNET Detail
This meta-analysis demonstrates that the 5-HT2A receptor 102T/C polymorphism confers susceptibility ... DisGeNET Detail
Recent studies have also shown an association between the allele C of 102T/C polymorphism in the 5-H... DisGeNET Detail
The aim of this study was to investigate the association of a serotonin transporter gene-linked poly... DisGeNET Detail
Association of T102C polymorphism of the 5-HT2A receptor gene with psychiatric status in fibromyalgi... DisGeNET Detail
Additional evidence for a role of serotonin (5-HT) in the pathogenesis of suicidal behavior is provi... DisGeNET Detail
Patients with major depression who had recently attempted suicide (n=191) and control subjects (n=19... DisGeNET Detail
T102C and -1438 G/A polymorphisms of the 5-HT2A receptor gene in Turkish patients with obsessive-com... DisGeNET Detail
No significant transmission disequilibrium was observed between the alleles of the T102C 5-HT2A rece... DisGeNET Detail
Both genotypic and allelic distributions of the 5-HT receptor 2A (5-HT2A) T102C variant were found t... DisGeNET Detail
The authors tested for association of the 5-HT2A receptor polymorphism (T102C) and the intron 7 tryp... DisGeNET Detail
Negative association between T102C polymorphism of the 5-HT2a receptor gene and schizophrenia in Jap... DisGeNET Detail
Genotypes and allele frequencies of 102T/C polymorphism of the HTR2A and 796G/C polymorphism of the ... DisGeNET Detail
There was no genetic association between HTR2A T102C with either schizophrenia or bipolar disorder u... DisGeNET Detail
The authors tested for association of the 5-HT2A receptor polymorphism (T102C) and the intron 7 tryp... DisGeNET Detail
This study suggests that the patients with homozygote C allele of the 102 T/C polymorphisms or homoz... DisGeNET Detail
Association of the T102C polymorphism in the HTR2A gene with major depressive disorder, bipolar diso... DisGeNET Detail
The strong and robust positive association that was noted between the C allele of HTR2A and psychosi... DisGeNET Detail
Recent studies suggest that the 5-hydroxytryptamine receptor 2A (5-HT2A) gene (HTR2A) T102C and G-14... DisGeNET Detail
T102C polymorphism of the serotonin (5-HT) 2A receptor gene in patients with non-fatal acute myocard... DisGeNET Detail
This study investigated whether the efficacy of aripiprazole can be predicted by functional HTR2A A-... DisGeNET Detail
Prediction of psychosis onset in Alzheimer disease: the role of depression symptom severity and the ... DisGeNET Detail
In a 3-year follow-up study, we evaluated the association of serotonin (5-HT) receptor 5-HT2a 102T/C... DisGeNET Detail
The aim of this study was to investigate the role of serotonin in depression, searching for associat... DisGeNET Detail
Our results suggest that the HTR2A T102C polymorphism may confer susceptibility to schizophrenia in ... DisGeNET Detail
Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is primarily associated wit... DisGeNET Detail
The aim of this study was to investigate the association of a serotonin transporter gene-linked poly... DisGeNET Detail
Association analysis of 5-HTTLPR variants, 5-HT2a receptor gene 102T/C polymorphism and migraine. DisGeNET Detail
Forty-nine patients, with schizophrenia or schizoaffective disorder and treated with clozapine (n = ... DisGeNET Detail
Many studies investigated the association between MDD and BD with the 5-HT2A 102 T/C, the 5-HTT prom... DisGeNET Detail
The serotonin 2A (5-HT2A) receptor gene has been implicated in the pathogenesis of suicidal behavior... DisGeNET Detail
Polymorphisms in the HTR2A (T102C), beta-globin [hemoglobin (Hb) S, C, and E], and cystic fibrosis (... DisGeNET Detail
Accordingly, two single nucleotide polymorphisms of the HTR2A gene (rs6314 ie His452Tyr and rs6313 i... DisGeNET Detail
This result suggests that 5HTR2A 1438A/G and 102T/C polymorphic regions can be associated with the p... DisGeNET Detail
Could HTR2A T102C and DRD3 Ser9Gly predict clinical improvement in patients with acutely exacerbated... DisGeNET Detail
Accordingly, two single nucleotide polymorphisms of the HTR2A gene (rs6314 ie His452Tyr and rs6313 i... DisGeNET Detail
Negative association between T102C polymorphism at the 5-HT2A receptor gene and bipolar affective di... DisGeNET Detail
This study suggests a mechanism for the generation of different neuropsychiatric symptoms in AD from... DisGeNET Detail
These preliminary data suggest that the T102C 5-HT2a receptor polymorphism may be a marker for impai... DisGeNET Detail
Many studies investigated the association between MDD and BD with the 5-HT2A 102 T/C, the 5-HTT prom... DisGeNET Detail
The aim of this study was to investigate the association of a serotonin transporter gene-linked poly... DisGeNET Detail
Association of HTR2A T102C and A-1438G polymorphisms with susceptibility to major depressive disorde... DisGeNET Detail
Thus, the present study suggests that the 5-HT2A T102C and ET-1 G/T polymorphisms are interactively ... DisGeNET Detail
We performed primer extension assays to measure relative expression of allele-specific HTR2A transcr... DisGeNET Detail
Many studies investigated the association between MDD and BD with the 5-HT2A 102 T/C, the 5-HTT prom... DisGeNET Detail
Association of the -1438 G/A and 102 T/C polymorphism of the 5-Ht2A receptor gene with irritable bow... DisGeNET Detail
Association between T102C and A-1438G polymorphisms in the serotonin receptor 2A (5-HT2A) gene and s... DisGeNET Detail
There was no genetic association between HTR2A T102C with either schizophrenia or bipolar disorder u... DisGeNET Detail
The aim of this study is to investigate whether there were any association between the 102 T/C and -... DisGeNET Detail
The aim of this study was to investigate the association of a serotonin transporter gene-linked poly... DisGeNET Detail
Parent-of-origin effect and genomic imprinting of the HTR2A receptor gene T102C polymorphism in psyc... DisGeNET Detail
The aim of this study was to investigate the role of serotonin in depression, searching for associat... DisGeNET Detail
We have recently shown that the linked serotonin-2A receptor (5-HT(2A)R) A-1438 G and T102C polymorp... DisGeNET Detail
A number of studies have assessed a relationship between the T102C polymorphism in the HTR2A gene wi... DisGeNET Detail
Subjects with possible or probable AD or mild cognitive impairment (MCI) without psychosis at study ... DisGeNET Detail
Association of the T102C polymorphism in the HTR2A gene with major depressive disorder, bipolar diso... DisGeNET Detail
Association analysis of 5-HTTLPR variants, 5-HT2a receptor gene 102T/C polymorphism and migraine. DisGeNET Detail
No significant differences in the distribution of allele and genotype frequencies of the 5-HTTLPR (p... DisGeNET Detail
A number of studies have assessed a relationship between the T102C polymorphism in the HTR2A gene wi... DisGeNET Detail
The serotonin 2A (5-HT2A) receptor gene has been implicated in the pathogenesis of suicidal behaviou... DisGeNET Detail
Moreover, no overall associations are detected when patients with major depression and controls are ... DisGeNET Detail
No significant differences in the distribution of allele and genotype frequencies of the 5-HTTLPR (p... DisGeNET Detail
Our findings suggest that PPI and habituation are modulated by 5-HT(2A)R A-1438G and T102C genotype ... DisGeNET Detail
Association between the -1438G/A and T102C polymorphisms of 5-HT2A receptor gene and obstructive sle... DisGeNET Detail
No significant differences in the distribution of allele and genotype frequencies of the 5-HTTLPR (p... DisGeNET Detail
Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is primarily associated wit... DisGeNET Detail
This result suggests that 5HTR2A 1438A/G and 102T/C polymorphic regions can be associated with the p... DisGeNET Detail
The aim of this study was to investigate the role of serotonin in depression, searching for associat... DisGeNET Detail
The aim of this study was to investigate the role of serotonin in depression, searching for associat... DisGeNET Detail
Recently, a 5-HT2A receptor gene T102C polymorphism has been reported to be associated with clinical... DisGeNET Detail
Association of the T102C polymorphism of 5-HT2A receptor gene with aura in migraine. DisGeNET Detail
The serotonin 2A (5-HT2A) receptor gene has been implicated in the pathogenesis of suicidal behavior... DisGeNET Detail
T102C polymorphism of the serotonin receptor 2A gene (5-HT2A) has been shown to be associated with c... DisGeNET Detail
Associations between suicidal ideation and 5-HTTLPR, STin2 VNTR, 5-HTR2a 1438A/G, and 5-HTR2a 102T/C... DisGeNET Detail
A significant association of the C/C genotype of the serotonin receptor 2A T102C (rs 6313) polymorph... DisGeNET Detail
Forty-nine patients, with schizophrenia or schizoaffective disorder and treated with clozapine (n = ... DisGeNET Detail
Forty-nine patients, with schizophrenia or schizoaffective disorder and treated with clozapine (n = ... DisGeNET Detail
Recent studies have shown an association of allele C of the 5-HT2A-T102C polymorphism with suicidal ... DisGeNET Detail
As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as ... DisGeNET Detail
Differential expression and parent-of-origin effect of the 5-HT2A receptor gene C102T polymorphism: ... DisGeNET Detail
Prediction of psychosis onset in Alzheimer disease: the role of depression symptom severity and the ... DisGeNET Detail
Associations between suicidal ideation and 5-HTTLPR, STin2 VNTR, 5-HTR2a 1438A/G, and 5-HTR2a 102T/C... DisGeNET Detail
Association study of the 5-HT(2A) receptor gene polymorphism, T102C and essential hypertension. DisGeNET Detail
Association of the 5-HT2A receptor gene polymorphism 102T/C with ischemic stroke. DisGeNET Detail
The serotonin 2A (5-HT2A) receptor gene has been implicated in the pathogenesis of suicidal behaviou... DisGeNET Detail
No significant differences in the distribution of allele and genotype frequencies of the 5-HTTLPR (p... DisGeNET Detail
Recent studies have shown an association of allele C of the 5-HT2A-T102C polymorphism with suicidal ... DisGeNET Detail
The purpose of this study is to investigate the association between four serotonergic polymorphisms ... DisGeNET Detail
No association or linkage between the 5-HT2a/T102C polymorphism and schizophrenia in Irish families. DisGeNET Detail
Influence of the interaction between environmental quality and T102C SNP in the HTR2A gene on fibrom... DisGeNET Detail
The strong and robust positive association that was noted between the C allele of HTR2A and psychosi... DisGeNET Detail
Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, we... DisGeNET Detail
The aim of this study was to investigate the association of a serotonin transporter gene-linked poly... DisGeNET Detail
While further research into the molecular mechanisms underlying this interaction is needed, our resu... DisGeNET Detail
Prediction of psychosis onset in Alzheimer disease: the role of depression symptom severity and the ... DisGeNET Detail
While further research into the molecular mechanisms underlying this interaction is needed, our resu... DisGeNET Detail
T102C polymorphism of the serotonin receptor 2A gene (5-HT2A) has been shown to be associated with c... DisGeNET Detail
This study suggests a mechanism for the generation of different neuropsychiatric symptoms in AD from... DisGeNET Detail
Additional evidence for a role of serotonin (5-HT) in the pathogenesis of suicidal behavior is provi... DisGeNET Detail
The T102C polymorphism of the 5-HT2A-receptor gene in fibromyalgia. DisGeNET Detail
Genotypes and allele frequencies of 102T/C polymorphism of the HTR2A and 796G/C polymorphism of the ... DisGeNET Detail
Hypomethylation of the serotonin receptor type-2A Gene (HTR2A) at T102C polymorphic site in DNA deri... DisGeNET Detail
Parent-of-origin effect and genomic imprinting of the HTR2A receptor gene T102C polymorphism in psyc... DisGeNET Detail
Supportive evidence for the association between the T102C 5-HTR2A gene polymorphism and schizophreni... DisGeNET Detail
102T/C SNP in the 5-hydroxytryptamine receptor 2A (HTR2A) gene and schizophrenia in two southern Han... DisGeNET Detail
The polymorphism in HTR2A (102T/C, -1438A/G) was identified by means of the polymerase chain reactio... DisGeNET Detail
No association of the T102C polymorphism of the serotonin 2A receptor gene (HTR2A) with suicidality ... DisGeNET Detail
The goal of the present study was to test the association of allele C of T102C HTR2A polymorphism wi... DisGeNET Detail
As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as ... DisGeNET Detail
Our data do not support an allelic association between the 102T/C polymorphism of the 5-HT2A recepto... DisGeNET Detail
The results suggest a potential role of the T102C HTR2A polymorphism in development of alcohol depen... DisGeNET Detail
The aim of the study was to investigate whether the 5-HT2A receptor gene's polymorphisms (His452Tyr ... DisGeNET Detail
Association of the T102C polymorphism in the HTR2A gene with major depressive disorder, bipolar diso... DisGeNET Detail
Our results suggest that the 102T/C polymorphism in 5-HT2A receptor gene is primarily associated wit... DisGeNET Detail
Both genotypic and allelic distributions of the 5-HT receptor 2A (5-HT2A) T102C variant were found t... DisGeNET Detail
Prediction of psychosis onset in Alzheimer disease: the role of depression symptom severity and the ... DisGeNET Detail
Association of the 5-HT2A receptor gene polymorphism 102T/C with ischemic stroke. DisGeNET Detail
As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as ... DisGeNET Detail
The strong and robust positive association that was noted between the C allele of HTR2A and psychosi... DisGeNET Detail
Moreover, no overall associations are detected when patients with major depression and controls are ... DisGeNET Detail
The aim of this study was to investigate the role of serotonin in depression, searching for associat... DisGeNET Detail
This data indicates that the T102C polymorphism in the 5-HT(2A) gene might be an independent risk fa... DisGeNET Detail
The strong and robust positive association that was noted between the C allele of HTR2A and psychosi... DisGeNET Detail
In the present study, we investigated the T102C genetic polymorphism of 5-HT(2A) receptors in Chines... DisGeNET Detail
The objective of this study was to determine the potential effects of single nucleotide polymorphism... DisGeNET Detail
About 62% of patients exhibiting the allelic combination of GG-GG-TT for rs6265, rs7430 and rs6313 o... DisGeNET Detail
5-HT2A receptor gene polymorphism rs6313 was associated with 5-HT2A receptor binding potential, with... DisGeNET Detail
We detected 7 single nucleotide polymorphisms (SNPs) on 13q14, one (rs6313) present at the HTR2A loc... DisGeNET Detail
This analysis revealed that only the C allele carrier of HTR2A single nucleotide polymorphism rs6313... DisGeNET Detail
5-HT2A receptor gene polymorphism rs6313 was associated with 5-HT2A receptor binding potential, with... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6313 dbSNP
Genome
hg19
Position
chr13:47,469,940-47,469,940
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1173
Mean of sample read depth (HGVD)
36.73
Standard deviation of sample read depth (HGVD)
18.37
Number of reference allele (HGVD)
1125
Number of alternative allele (HGVD)
1221
Allele Frequency (HGVD)
0.520460358056266
Gene Symbol (HGVD)
HTR2A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs6313
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5132
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8602
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8636
East Asian Allele Counts (ExAC)
5032
East Asian Heterozygous Counts (ExAC)
2024
East Asian Homozygous Counts (ExAC)
1504
East Asian Allele Frequency (ExAC)
0.5826771653543307
Chromosome Counts in All Race (ExAC)
121344
Allele Counts in All Race (ExAC)
49405
Heterozygous Counts in All Race (ExAC)
28563
Homozygous Counts in All Race (ExAC)
10421
Allele Frequency in All Race (ExAC)
0.4071482726793249
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