chr5:63962738:C>G Detail (hg38) (HTR1A)

Information

Genome

Assembly Position
hg19 chr5:63,258,565-63,258,565 View the variant detail on this assembly version.
hg38 chr5:63,962,738-63,962,738

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.737
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
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
0.011 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
0.011 Unipolar Depression In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.040 major depressive disorder In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.038 Mental Depression In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.009 depressive disorder In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.016 major depressive disorder In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.008 Unipolar Depression In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.005 Unipolar Depression In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.014 major depressive disorder In self-identified white patients with major depressive disorder (N=126) treated... BeFree 22727709 Detail
0.002 Depressive Symptoms We examined the valine (Val) to methionine (Met) polymorphism in brain-derived n... BeFree 25781924 Detail
<0.001 schizophrenia While further research into the molecular mechanisms underlying this interaction... BeFree 19352591 Detail
0.020 schizophrenia While further research into the molecular mechanisms underlying this interaction... BeFree 19352591 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 While further research into the molecular mechanisms underlying this interaction... BeFree 19352591 Detail
<0.001 schizophrenia While further research into the molecular mechanisms underlying this interaction... BeFree 19352591 Detail
0.005 Gilles de la Tourette syndrome As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in G... BeFree 20010450 Detail
0.005 Gilles de la Tourette syndrome As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in G... BeFree 20010450 Detail
0.002 Depressive Symptoms Data from two samples of 5-7-month-old infants (N = 139) were used to examine wh... BeFree 24304270 Detail
0.003 PANIC DISORDER 1 The present study revealed that plasma concentration of PAX, 5-HTTLPR genotype, ... BeFree 21688171 Detail
0.052 Mental Depression In humans, the G variant of the C(-1019)G 5-HT1A receptor promoter gene polymorp... BeFree 21397953 Detail
0.040 major depressive disorder Serotonin 1A (5-HT1A) binding potential (BP) as assessed by positron emission to... BeFree 16395308 Detail
0.008 Anxiety Disorders C allele of 5-HT1A C-1019G polymorphism might be an independent risk factor for ... BeFree 22222329 Detail
0.005 schizophrenia We aimed to investigate the associations of HTR1A C-1019G, HTR2A-1438A/G, TPH1 2... BeFree 21399903 Detail
0.011 Unipolar Depression Serotonin 1A (5-HT1A) binding potential (BP) as assessed by positron emission to... BeFree 16395308 Detail
0.040 major depressive disorder We genotyped the HTR1A C-1019G polymorphism as well as polymorphisms in the sero... BeFree 16302021 Detail
0.020 schizophrenia Huang and colleagues reported that rs6295 in HTR1A was associated with schizophr... BeFree 19747927 Detail
0.040 major depressive disorder Concerning neuroreceptor PET imaging, decreased 5-HT(1A) binding potential in th... BeFree 19358877 Detail
0.008 bipolar disorder In the meta-analysis, rs6295 in HTR1A was associated with BP patients. BeFree 20594600 Detail
0.006 Epilepsy, Temporal Lobe C allele of 5-HT1A C-1019G polymorphism might be an independent risk factor for ... BeFree 22222329 Detail
<0.001 Mental Depression History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism... BeFree 26001668 Detail
0.011 depressive disorder In humans, the G variant of the C(-1019)G 5-HT1A receptor promoter gene polymorp... BeFree 21397953 Detail
0.045 panic disorder The present study revealed that plasma concentration of PAX, 5-HTTLPR genotype, ... BeFree 21688171 Detail
0.052 Mental Depression The current study aimed to investigate the interaction between the serotonin 1A ... BeFree 21577007 Detail
<0.001 depressive disorder History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism... BeFree 26001668 Detail
0.014 Epilepsy, Temporal Lobe We evaluate the influence of 5-HTTLPR and 5-HTTVNTR polymorphisms in the 5-HTT g... BeFree 22222329 Detail
0.052 Mental Depression The 5-HT2A A-1438G, 5-HT2A T102C, BDNF Val66Met, and 5-HT1A C-1019G gene polymor... BeFree 24274373 Detail
0.011 depressive disorder History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism... BeFree 26001668 Detail
0.002 Depressive Symptoms The interaction between the C-1019G polymorphism in HTR1A and recent negative li... BeFree 21577007 Detail
<0.001 Mental Depression History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism... BeFree 26001668 Detail
0.011 Unipolar Depression Concerning neuroreceptor PET imaging, decreased 5-HT(1A) binding potential in th... BeFree 19358877 Detail
0.052 Mental Depression Results also confirm the mediating role of impulsivity between the SNP rs6295 of... BeFree 23269215 Detail
0.011 Unipolar Depression We genotyped the HTR1A C-1019G polymorphism as well as polymorphisms in the sero... BeFree 16302021 Detail
0.020 schizophrenia We aimed to investigate the associations of HTR1A C-1019G, HTR2A-1438A/G, TPH1 2... BeFree 21399903 Detail
0.002 Depressive Symptoms The most replicated findings are the associations between rs6295 (HTR1A gene) G ... BeFree 23547754 Detail
0.011 depressive disorder The current study aimed to investigate the interaction between the serotonin 1A ... BeFree 21577007 Detail
0.052 Mental Depression History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism... BeFree 26001668 Detail
0.018 Mood Disorders History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism... BeFree 26001668 Detail
0.003 Mental disorders There are conflicting reports of an association between a common functional sing... BeFree 19997044 Detail
0.006 Epilepsy, Temporal Lobe The mRNA expression of HTR1a was significantly more abundant in hippocampal mRNA... BeFree 23333373 Detail
0.002 attention deficit hyperactivity disorder We investigated the association of serotonin the 1A receptor C-1019G single nucl... BeFree 20470849 Detail
<0.001 Premenstrual dysphoric disorder As the G/G genotype of HTR1A (rs6295) involves in reducing serotonin neurotransm... BeFree 24158751 Detail
0.003 PANIC DISORDER 1 Association of the functional -1019C/G 5-HT1A polymorphism with prefrontal corte... BeFree 16316476 Detail
0.003 Migraine Disorders No association of C-1019G promoter polymorphism of 5-HT1A receptor gene with mig... BeFree 16722981 Detail
0.040 major depressive disorder Association analysis for the C-1019G promoter variant of the 5-HT1A receptor gen... BeFree 15539859 Detail
0.011 depressive disorder The 5-HT2A A-1438G, 5-HT2A T102C, BDNF Val66Met, and 5-HT1A C-1019G gene polymor... BeFree 24274373 Detail
0.011 depressive disorder Results also confirm the mediating role of impulsivity between the SNP rs6295 of... BeFree 23269215 Detail
0.005 PANIC DISORDER 1 The present study revealed that plasma concentration of PAX, 5-HTTLPR genotype, ... BeFree 21688171 Detail
<0.001 Completed Suicide In humans, the G variant of the C(-1019)G 5-HT1A receptor promoter gene polymorp... BeFree 21397953 Detail
0.011 Unipolar Depression Association analysis for the C-1019G promoter variant of the 5-HT1A receptor gen... BeFree 15539859 Detail
0.006 attention deficit hyperactivity disorder Our results suggest that the HTR1A C-1019G SNP may affect susceptibility to ADHD... BeFree 20470849 Detail
<0.001 Adult attention deficit hyperactivity disorder Only the G allele of HTR1A rs6295 seemed to increase the risk of emotional-drama... BeFree 19894072 Detail
0.101 panic disorder Association of the functional -1019C/G 5-HT1A polymorphism with prefrontal corte... BeFree 16316476 Detail
0.005 schizophrenia We aimed to investigate the associations of HTR1A C-1019G, HTR2A-1438A/G, TPH1 2... BeFree 21399903 Detail
<0.001 depressive disorder History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism... BeFree 26001668 Detail
0.002 Depressive Symptoms The most replicated findings are the associations between rs6295 (HTR1A gene) G ... BeFree 23547754 Detail
0.101 panic disorder The present study revealed that plasma concentration of PAX, 5-HTTLPR genotype, ... BeFree 21688171 Detail
0.008 bipolar disorder Results from this expanded meta-analysis, which included our own new study, sugg... BeFree 22752684 Detail
<0.001 Panic Attacks The 5-HT1A receptor -1019C/G polymorphism was strongly associated with response ... BeFree 19800133 Detail
0.003 Personality Disorders Only the G allele of HTR1A rs6295 seemed to increase the risk of emotional-drama... BeFree 19894072 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000524.3(HTR1A):c.-1019G>C 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
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
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
In self-identified white patients with major depressive disorder (N=126) treated with open-label dul... DisGeNET Detail
We examined the valine (Val) to methionine (Met) polymorphism in brain-derived neurotrophic factor (... DisGeNET Detail
While further research into the molecular mechanisms underlying this interaction is needed, our resu... DisGeNET Detail
While further research into the molecular mechanisms underlying this interaction is needed, our resu... DisGeNET Detail
As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as ... DisGeNET Detail
While further research into the molecular mechanisms underlying this interaction is needed, our resu... DisGeNET Detail
While further research into the molecular mechanisms underlying this interaction is needed, our resu... DisGeNET Detail
As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as ... DisGeNET Detail
As neuroimaging studies allude to dopaminergic and serotonergic dysfunction in GTS and serotonin as ... DisGeNET Detail
Data from two samples of 5-7-month-old infants (N = 139) were used to examine whether established ca... DisGeNET Detail
The present study revealed that plasma concentration of PAX, 5-HTTLPR genotype, -1019C/G 5-HT(1A) ge... DisGeNET Detail
In humans, the G variant of the C(-1019)G 5-HT1A receptor promoter gene polymorphism (rs6295) has be... DisGeNET Detail
Serotonin 1A (5-HT1A) binding potential (BP) as assessed by positron emission tomography (PET) is hi... DisGeNET Detail
C allele of 5-HT1A C-1019G polymorphism might be an independent risk factor for anxiety disorders in... DisGeNET Detail
We aimed to investigate the associations of HTR1A C-1019G, HTR2A-1438A/G, TPH1 218A/C, and TPH2-703G... DisGeNET Detail
Serotonin 1A (5-HT1A) binding potential (BP) as assessed by positron emission tomography (PET) is hi... DisGeNET Detail
We genotyped the HTR1A C-1019G polymorphism as well as polymorphisms in the serotonin transporter ge... DisGeNET Detail
Huang and colleagues reported that rs6295 in HTR1A was associated with schizophrenia. DisGeNET Detail
Concerning neuroreceptor PET imaging, decreased 5-HT(1A) binding potential in the raphe, medial temp... DisGeNET Detail
In the meta-analysis, rs6295 in HTR1A was associated with BP patients. DisGeNET Detail
C allele of 5-HT1A C-1019G polymorphism might be an independent risk factor for anxiety disorders in... DisGeNET Detail
History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism of the transcriptio... DisGeNET Detail
In humans, the G variant of the C(-1019)G 5-HT1A receptor promoter gene polymorphism (rs6295) has be... DisGeNET Detail
The present study revealed that plasma concentration of PAX, 5-HTTLPR genotype, -1019C/G 5-HT(1A) ge... DisGeNET Detail
The current study aimed to investigate the interaction between the serotonin 1A receptor gene (HTR1A... DisGeNET Detail
History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism of the transcriptio... DisGeNET Detail
We evaluate the influence of 5-HTTLPR and 5-HTTVNTR polymorphisms in the 5-HTT gene and the C-1019G ... DisGeNET Detail
The 5-HT2A A-1438G, 5-HT2A T102C, BDNF Val66Met, and 5-HT1A C-1019G gene polymorphisms might predict... DisGeNET Detail
History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism of the transcriptio... DisGeNET Detail
The interaction between the C-1019G polymorphism in HTR1A and recent negative life stressors account... DisGeNET Detail
History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism of the transcriptio... DisGeNET Detail
Concerning neuroreceptor PET imaging, decreased 5-HT(1A) binding potential in the raphe, medial temp... DisGeNET Detail
Results also confirm the mediating role of impulsivity between the SNP rs6295 of HTR1A and depressio... DisGeNET Detail
We genotyped the HTR1A C-1019G polymorphism as well as polymorphisms in the serotonin transporter ge... DisGeNET Detail
We aimed to investigate the associations of HTR1A C-1019G, HTR2A-1438A/G, TPH1 218A/C, and TPH2-703G... DisGeNET Detail
The most replicated findings are the associations between rs6295 (HTR1A gene) G allele or G/G genoty... DisGeNET Detail
The current study aimed to investigate the interaction between the serotonin 1A receptor gene (HTR1A... DisGeNET Detail
History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism of the transcriptio... DisGeNET Detail
History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism of the transcriptio... DisGeNET Detail
There are conflicting reports of an association between a common functional single nucleotide polymo... DisGeNET Detail
The mRNA expression of HTR1a was significantly more abundant in hippocampal mRNA of TLE patients hom... DisGeNET Detail
We investigated the association of serotonin the 1A receptor C-1019G single nucleotide polymorphism ... DisGeNET Detail
As the G/G genotype of HTR1A (rs6295) involves in reducing serotonin neurotransmission, our results ... DisGeNET Detail
Association of the functional -1019C/G 5-HT1A polymorphism with prefrontal cortex and amygdala activ... DisGeNET Detail
No association of C-1019G promoter polymorphism of 5-HT1A receptor gene with migraine. DisGeNET Detail
Association analysis for the C-1019G promoter variant of the 5-HT1A receptor gene with auditory evok... DisGeNET Detail
The 5-HT2A A-1438G, 5-HT2A T102C, BDNF Val66Met, and 5-HT1A C-1019G gene polymorphisms might predict... DisGeNET Detail
Results also confirm the mediating role of impulsivity between the SNP rs6295 of HTR1A and depressio... DisGeNET Detail
The present study revealed that plasma concentration of PAX, 5-HTTLPR genotype, -1019C/G 5-HT(1A) ge... DisGeNET Detail
In humans, the G variant of the C(-1019)G 5-HT1A receptor promoter gene polymorphism (rs6295) has be... DisGeNET Detail
Association analysis for the C-1019G promoter variant of the 5-HT1A receptor gene with auditory evok... DisGeNET Detail
Our results suggest that the HTR1A C-1019G SNP may affect susceptibility to ADHD. DisGeNET Detail
Only the G allele of HTR1A rs6295 seemed to increase the risk of emotional-dramatic cluster B person... DisGeNET Detail
Association of the functional -1019C/G 5-HT1A polymorphism with prefrontal cortex and amygdala activ... DisGeNET Detail
We aimed to investigate the associations of HTR1A C-1019G, HTR2A-1438A/G, TPH1 218A/C, and TPH2-703G... DisGeNET Detail
History of mood disorders and HTR1A G allele variation, the C-1019G polymorphism of the transcriptio... DisGeNET Detail
The most replicated findings are the associations between rs6295 (HTR1A gene) G allele or G/G genoty... DisGeNET Detail
The present study revealed that plasma concentration of PAX, 5-HTTLPR genotype, -1019C/G 5-HT(1A) ge... DisGeNET Detail
Results from this expanded meta-analysis, which included our own new study, suggest that rs6295 (C-1... DisGeNET Detail
The 5-HT1A receptor -1019C/G polymorphism was strongly associated with response to treatment, in whi... DisGeNET Detail
Only the G allele of HTR1A rs6295 seemed to increase the risk of emotional-dramatic cluster B person... DisGeNET Detail
Gene
-
dbSNP
rs6295 dbSNP
Genome
hg38
Position
chr5:63,962,738-63,962,738
Variant Type
snv
Reference Allele
C
Alternative Allele
G
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))
rs6295
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.737
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12352
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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