chr13:46897343:C>T Detail (hg38) (HTR2A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:47,471,478-47,471,478 View the variant detail on this assembly version. |
| hg38 | chr13:46,897,343-46,897,343 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.513 | |
| 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 |
|
Likely benign
|
2019-10-01 | no assertion criteria provided | Cocaine-Related Disorders |
inherited
|
Detail |
risk factor
|
2004-09-15 | no assertion criteria provided | Obsessive-compulsive disorder, susceptibility to |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 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 |
| 0.007 | Unipolar Depression | To explore the possible relationship between six single nucleotide polymorphisms... | BeFree | 22480177 | Detail |
| 0.012 | major depressive disorder | To explore the possible relationship between six single nucleotide polymorphisms... | BeFree | 22480177 | Detail |
| 0.011 | Unipolar Depression | To explore the possible relationship between six single nucleotide polymorphisms... | BeFree | 22480177 | Detail |
| 0.155 | major depressive disorder | To explore the possible relationship between six single nucleotide polymorphisms... | BeFree | 22480177 | Detail |
| 0.133 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| <0.001 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.020 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.003 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.002 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.001 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.029 | attention deficit hyperactivity disorder | SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-H... | BeFree | 23872233 | Detail |
| 0.141 | obsessive-compulsive disorder | The purpose of this study is to investigate the association between four seroton... | BeFree | 18191318 | Detail |
| 0.003 | osteochondritis dissecans | The purpose of this study is to investigate the association between four seroton... | BeFree | 18191318 | Detail |
| 0.004 | fibromyalgia | The objective of this study was to determine the potential effects of single nuc... | BeFree | 18196244 | Detail |
| 0.002 | Depressive Symptoms | The most replicated findings are the associations between rs6295 (HTR1A gene) G ... | BeFree | 23547754 | Detail |
| 0.002 | Depressive Symptoms | The most replicated findings are the associations between rs6295 (HTR1A gene) G ... | BeFree | 23547754 | Detail |
| 0.141 | obsessive-compulsive disorder | Pilot study on HTR2A promoter polymorphism, -1438G/A (rs6311) and a nearby copy ... | BeFree | 21874579 | Detail |
| 0.141 | obsessive-compulsive disorder | Nominally significant association was found at the HTR2A rs6311 polymorphism in ... | BeFree | 17241828 | Detail |
| 0.005 | Gilles de la Tourette syndrome | Nominally significant association was found at the HTR2A rs6311 polymorphism in ... | BeFree | 17241828 | Detail |
| 0.155 | major depressive disorder | The 5HT2A receptor gene (HTR2A) polymorphisms rs7997012 and rs6311 have in some ... | BeFree | 21741447 | Detail |
| 0.001 | borderline personality disorder | 5-HTTVNTR and MAOA-LPR may have independent predictive effects on co-morbid BPD ... | BeFree | 24355137 | Detail |
| 0.003 | psoriasis | We investigated a possible association between the -1438A/G single nucleotide po... | BeFree | 20198576 | Detail |
| 0.011 | Unipolar Depression | The 5HT2A receptor gene (HTR2A) polymorphisms rs7997012 and rs6311 have in some ... | BeFree | 21741447 | Detail |
| 0.005 | chronic fatigue syndrome | We used functional and structural equation modeling (SEM) approaches to assess t... | BeFree | 20941551 | Detail |
| 0.003 | osteochondritis dissecans | Nominally significant association was found at the HTR2A rs6311 polymorphism in ... | BeFree | 17241828 | Detail |
| 0.001 | Atrial Septal Defects | Consistent with our previous findings in the dorsolateral prefrontal cortex of u... | BeFree | 24753316 | Detail |
| <0.001 | tic disorder | Nominally significant association was found at the HTR2A rs6311 polymorphism in ... | BeFree | 17241828 | Detail |
| 0.007 | Fatigue | HTR2A was up-regulated in CFS through allele-specific expression modulated by tr... | BeFree | 20941551 | Detail |
| 0.006 | heroin dependence | By MDR (Multifactor Dimensionality Reduction) analyses, the interactive effects ... | BeFree | 24355137 | Detail |
| 0.006 | Fatigue | HTR2A was up-regulated in CFS through allele-specific expression modulated by tr... | BeFree | 20941551 | Detail |
| 0.006 | heroin dependence | This study aimed to investigate whether three serotonergic polymorphisms (HTR2A ... | BeFree | 19328219 | Detail |
| 0.008 | heroin dependence | This study aimed to investigate whether three serotonergic polymorphisms (HTR2A ... | BeFree | 19328219 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001378924.1(HTR2A):c.-329+609G>A AND not specified | ClinVar | Detail |
| NM_001378924.1(HTR2A):c.-329+609G>A AND Cocaine-Related Disorders | ClinVar | Detail |
| NM_001378924.1(HTR2A):c.-329+609G>A AND Obsessive-compulsive disorder, susceptibility to | ClinVar | 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 |
| To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... | DisGeNET | Detail |
| To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... | DisGeNET | Detail |
| To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... | DisGeNET | Detail |
| To explore the possible relationship between six single nucleotide polymorphisms (SNPs) (rs6311 and ... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-HT2A (rs6311) and NET... | DisGeNET | Detail |
| The purpose of this study is to investigate the association between four serotonergic polymorphisms ... | DisGeNET | Detail |
| The purpose of this study is to investigate the association between four serotonergic polymorphisms ... | DisGeNET | Detail |
| The objective of this study was to determine the potential effects of single nucleotide polymorphism... | DisGeNET | Detail |
| The most replicated findings are the associations between rs6295 (HTR1A gene) G allele or G/G genoty... | DisGeNET | Detail |
| The most replicated findings are the associations between rs6295 (HTR1A gene) G allele or G/G genoty... | DisGeNET | Detail |
| Pilot study on HTR2A promoter polymorphism, -1438G/A (rs6311) and a nearby copy number variation sho... | DisGeNET | Detail |
| Nominally significant association was found at the HTR2A rs6311 polymorphism in subjects with tic di... | DisGeNET | Detail |
| Nominally significant association was found at the HTR2A rs6311 polymorphism in subjects with tic di... | DisGeNET | Detail |
| The 5HT2A receptor gene (HTR2A) polymorphisms rs7997012 and rs6311 have in some earlier studies been... | DisGeNET | Detail |
| 5-HTTVNTR and MAOA-LPR may have independent predictive effects on co-morbid BPD in female heroin-dep... | DisGeNET | Detail |
| We investigated a possible association between the -1438A/G single nucleotide polymorphism (rs6311) ... | DisGeNET | Detail |
| The 5HT2A receptor gene (HTR2A) polymorphisms rs7997012 and rs6311 have in some earlier studies been... | DisGeNET | Detail |
| We used functional and structural equation modeling (SEM) approaches to assess the contributions of ... | DisGeNET | Detail |
| Nominally significant association was found at the HTR2A rs6311 polymorphism in subjects with tic di... | DisGeNET | Detail |
| Consistent with our previous findings in the dorsolateral prefrontal cortex of unaffected individual... | DisGeNET | Detail |
| Nominally significant association was found at the HTR2A rs6311 polymorphism in subjects with tic di... | DisGeNET | Detail |
| HTR2A was up-regulated in CFS through allele-specific expression modulated by transcription factors ... | DisGeNET | Detail |
| By MDR (Multifactor Dimensionality Reduction) analyses, the interactive effects between MAOA-LPR and... | DisGeNET | Detail |
| HTR2A was up-regulated in CFS through allele-specific expression modulated by transcription factors ... | DisGeNET | Detail |
| This study aimed to investigate whether three serotonergic polymorphisms (HTR2A A-1438G (rs6311), an... | DisGeNET | Detail |
| This study aimed to investigate whether three serotonergic polymorphisms (HTR2A A-1438G (rs6311), an... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs6311 dbSNP
- Genome
- hg38
- Position
- chr13:46,897,343-46,897,343
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs6311
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5129
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8597
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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