chr3:114171968:C>T Detail (hg38) (DRD3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:113,890,815-113,890,815 View the variant detail on this assembly version. |
| hg38 | chr3:114,171,968-114,171,968 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_033663.5:c.25G>A | NP_387512.3:p.Gly9Ser |
| NM_000796.5:c.25G>A | NP_000787.2:p.Gly9Ser | |
| NM_001282563.2:c.25G>A | NP_001269492.1:p.Gly9Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.717 |
| ToMMo:0.726 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.709 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2007-03-06 | no assertion criteria provided | Schizophrenia, susceptibility to |
germline
|
Detail |
|
risk factor
|
2007-03-06 | no assertion criteria provided | Essential tremor, susceptibility to |
germline
|
Detail |
|
Benign
|
2018-03-06 | criteria provided, single submitter | Tremor, hereditary essential, 1 |
germline
|
Detail |
|
Likely benign
|
2018-03-09 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Benign
|
2019-10-16 | criteria provided, single submitter | DRD3-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.010 | Tardive Dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.001 | Nonorganic psychosis | Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... | BeFree | 18351593 | Detail |
| 0.013 | Tardive Dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.010 | lingual-facial-buccal dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.016 | Tardive Dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.013 | lingual-facial-buccal dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.019 | lingual-facial-buccal dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.006 | lingual-facial-buccal dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.004 | Psychotic Disorders | Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... | BeFree | 18351593 | Detail |
| 0.006 | Psychotic Disorders | Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... | BeFree | 18351593 | Detail |
| 0.006 | Tardive Dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.003 | Nonorganic psychosis | Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... | BeFree | 18351593 | Detail |
| 0.037 | Tardive Dyskinesia | Search for these determinants has led to a few consensus associations of CYP2D6 ... | BeFree | 18781856 | Detail |
| 0.012 | Nonorganic psychosis | Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... | BeFree | 18351593 | Detail |
| 0.032 | Psychotic Disorders | Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) po... | BeFree | 18351593 | Detail |
| 0.025 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
| 0.006 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
| 0.264 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
| 0.098 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
| 0.016 | Tardive Dyskinesia | This study tested the association between tardive dyskinesia (TD) and polymorphi... | BeFree | 16160620 | Detail |
| 0.019 | lingual-facial-buccal dyskinesia | This study tested the association between tardive dyskinesia (TD) and polymorphi... | BeFree | 16160620 | Detail |
| <0.001 | lingual-facial-buccal dyskinesia | This study tested the association between tardive dyskinesia (TD) and polymorphi... | BeFree | 16160620 | Detail |
| 0.291 | schizophrenia | We investigate the association of the polymorphism of the Ser311Cys and Ser9Gly ... | BeFree | 12497614 | Detail |
| <0.001 | Tardive Dyskinesia | This study tested the association between tardive dyskinesia (TD) and polymorphi... | BeFree | 16160620 | Detail |
| <0.001 | heroin dependence | The GTA haplotype frequency in the block (rs324029, rs6280, rs9825563) was signi... | BeFree | 24398431 | Detail |
| 0.001 | Bipolar II disorder | We provide initial evidence that the BDNF Val66Met and DRD3 Ser9Gly genotypes in... | BeFree | 22877924 | Detail |
| 0.001 | Nonorganic psychosis | In this first phase of the project, the objective was to investigate the distrib... | BeFree | 19142409 | Detail |
| <0.001 | Bipolar II disorder | We provide initial evidence that the BDNF Val66Met and DRD3 Ser9Gly genotypes in... | BeFree | 22877924 | Detail |
| 0.004 | Psychotic Disorders | In this first phase of the project, the objective was to investigate the distrib... | BeFree | 19142409 | Detail |
| 0.341 | schizophrenia | Could HTR2A T102C and DRD3 Ser9Gly predict clinical improvement in patients with... | BeFree | 17924589 | Detail |
| 0.264 | schizophrenia | Could HTR2A T102C and DRD3 Ser9Gly predict clinical improvement in patients with... | BeFree | 17924589 | Detail |
| 0.010 | Alcoholic Intoxication, Chronic | In the absence of genetic data from Indian population, we evaluated genetic asso... | BeFree | 24135011 | Detail |
| <0.001 | Anemia, Sickle Cell | Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorp... | BeFree | 25102390 | Detail |
| <0.001 | Acute onset pain | Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorp... | BeFree | 25102390 | Detail |
| 0.023 | bipolar disorder | Functional polymorphisms in the serotonin transporter (5-HTTLPR), catechol-O-met... | BeFree | 16969276 | Detail |
| 0.226 | bipolar disorder | Functional polymorphisms in the serotonin transporter (5-HTTLPR), catechol-O-met... | BeFree | 16969276 | Detail |
| <0.001 | Pain | These exploratory findings suggest that DRD3 Ser9Gly and COMT Val158Met may cont... | BeFree | 25102390 | Detail |
| <0.001 | Anemia, Sickle Cell | Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorp... | BeFree | 25102390 | Detail |
| <0.001 | Acute onset pain | Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorp... | BeFree | 25102390 | Detail |
| 0.181 | bipolar disorder | Functional polymorphisms in the serotonin transporter (5-HTTLPR), catechol-O-met... | BeFree | 16969276 | Detail |
| 0.236 | Pain | These exploratory findings suggest that DRD3 Ser9Gly and COMT Val158Met may cont... | BeFree | 25102390 | Detail |
| 0.037 | Tardive Dyskinesia | Antipsychotic-induced tardive dyskinesia and the Ser9Gly polymorphism in the DRD... | BeFree | 16513329 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | Two gene variants appeared to be significant after adding them to the clinical r... | BeFree | 16160620 | Detail |
| 0.004 | MAJOR AFFECTIVE DISORDER 5 | A serine to glycine substitution at position 9 in the extracellular N-terminal p... | BeFree | 8493294 | Detail |
| 0.007 | Dyskinetic syndrome | To investigate the association between orofaciolingual (TDof) and limb-truncal d... | BeFree | 19439249 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | Pharmacogenetics of tardive dyskinesia: combined analysis of 780 patients suppor... | BeFree | 12062911 | Detail |
| 0.037 | Tardive Dyskinesia | Association of the Ser9Gly polymorphism in the dopamine D3 receptor gene with ta... | BeFree | 12109967 | Detail |
| 0.010 | Alcoholic Intoxication, Chronic | DRD3 gene rs6280 polymorphism may be associated with alcohol dependence overall ... | BeFree | 24776816 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | The DRD3 rs6280 polymorphism and prevalence of tardive dyskinesia: a meta-analys... | BeFree | 19358223 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | Association of the Ser9Gly polymorphism in the dopamine D3 receptor gene with ta... | BeFree | 12109967 | Detail |
| <0.001 | schizoaffective disorder | In order to clarify the role of DRD3 alterations in the aetiology of disease, we... | BeFree | 15567076 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | Antipsychotic-induced tardive dyskinesia and the Ser9Gly polymorphism in the DRD... | BeFree | 16513329 | Detail |
| 0.264 | schizophrenia | Dopamine D3 receptor gene Ser9Gly variant and schizophrenia: association study a... | BeFree | 12605094 | Detail |
| 0.037 | Tardive Dyskinesia | Thus, a number of studies have focused on the association of dopamine system gen... | BeFree | 19238168 | Detail |
| 0.037 | Tardive Dyskinesia | This study investigated the possible relationship between TD and the polymorphis... | BeFree | 18562401 | Detail |
| 0.003 | lingual-facial-buccal dyskinesia | Two gene variants appeared to be significant after adding them to the clinical r... | BeFree | 16160620 | Detail |
| 0.264 | schizophrenia | The dopamine D3 receptor (DRD3) Ser9Gly polymorphism and schizophrenia: a haplot... | BeFree | 9491816 | Detail |
| <0.001 | Dyskinetic syndrome | To investigate the association between orofaciolingual (TDof) and limb-truncal d... | BeFree | 19439249 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | Thus, a number of studies have focused on the association of dopamine system gen... | BeFree | 19238168 | Detail |
| 0.005 | Tobacco use disorder | [A functional polymorphism, rs6280, in DRD3 is significantly associated with nic... | GAD | 18348205 | Detail |
| 0.037 | Tardive Dyskinesia | Association between the Ser9Gly polymorphism of the dopamine D3 receptor gene an... | BeFree | 11490179 | Detail |
| <0.001 | HIV Infections | Dopamine receptor D3 genetic polymorphism (rs6280TC) is associated with rates of... | BeFree | 21491142 | Detail |
| 0.023 | bipolar disorder | A serine to glycine substitution at position 9 in the extracellular N-terminal p... | BeFree | 8493294 | Detail |
| 0.264 | schizophrenia | No association between the DRD3 Ser9Gly polymorphism and schizophrenia. | BeFree | 17698325 | Detail |
| 0.264 | schizophrenia | Allelic association between a Ser-9-Gly polymorphism in the dopamine D3 receptor... | BeFree | 8641685 | Detail |
| <0.001 | Adult attention deficit hyperactivity disorder | A transmission disequilibrium test of the Ser9/Gly dopamine D3 receptor gene pol... | BeFree | 11864723 | Detail |
| 0.024 | essential tremor | Meta-analysis of the influence of DRD3 Ser9Gly variant on susceptibility for ess... | BeFree | 24054403 | Detail |
| <0.001 | Chorea | Stepwise regression analysis revealed no effect of DRD3 Ser9Gly on chorea, dysto... | BeFree | 19353703 | Detail |
| 0.264 | schizophrenia | We suggest that the DRD3 Ser9Gly polymorphism may be a contributing factor to th... | BeFree | 11673801 | Detail |
| 0.004 | MAJOR AFFECTIVE DISORDER 6 | A serine to glycine substitution at position 9 in the extracellular N-terminal p... | BeFree | 8493294 | Detail |
| 0.264 | schizophrenia | No association between the Ser9Gly polymorphism of the dopamine D3 receptor gene... | BeFree | 17171662 | Detail |
| 0.264 | schizophrenia | Overall, our results suggest that the DRD3 Ser9Gly polymorphism may not confer s... | BeFree | 18703116 | Detail |
| 0.037 | Tardive Dyskinesia | Pharmacogenetics of tardive dyskinesia: combined analysis of 780 patients suppor... | BeFree | 12062911 | Detail |
| 0.024 | essential tremor | Recently, an association between the dopamine D(3) receptor (DRD3) Ser9Gly polym... | BeFree | 20434388 | Detail |
| 0.008 | Migraine Disorders | Our data suggest that essential tremor patients have a higher risk of lifetime m... | BeFree | 24728302 | Detail |
| 0.120 | Dyskinetic syndrome | To investigate the association between orofaciolingual (TDof) and limb-truncal d... | BeFree | 19439249 | Detail |
| <0.001 | nicotine dependence | A functional polymorphism, rs6280, in DRD3 is significantly associated with nico... | BeFree | 18348205 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | Genetic association between the dopamine D3 receptor gene polymorphism (Ser9Gly)... | BeFree | 22172931 | Detail |
| 0.264 | schizophrenia | The Ser9Gly polymorphism of the dopamine D3 receptor gene and risk of schizophre... | BeFree | 18295456 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | This study investigated the possible relationship between TD and the polymorphis... | BeFree | 18562401 | Detail |
| 0.264 | schizophrenia | Proposed schizophrenia-related gene polymorphism: expression of the Ser9Gly muta... | BeFree | 8780735 | Detail |
| 0.004 | MAJOR AFFECTIVE DISORDER 2 | A serine to glycine substitution at position 9 in the extracellular N-terminal p... | BeFree | 8493294 | Detail |
| 0.264 | schizophrenia | Eighty-eight acutely ill patients with schizophrenia or schizoaffective disorder... | BeFree | 18320559 | Detail |
| 0.004 | MAJOR AFFECTIVE DISORDER 1 | A serine to glycine substitution at position 9 in the extracellular N-terminal p... | BeFree | 8493294 | Detail |
| 0.024 | essential tremor | Our data suggest that essential tremor patients have a higher risk of lifetime m... | BeFree | 24728302 | Detail |
| 0.037 | Tardive Dyskinesia | The DRD3 rs6280 polymorphism and prevalence of tardive dyskinesia: a meta-analys... | BeFree | 19358223 | Detail |
| 0.004 | Major affective disorder 7 | A serine to glycine substitution at position 9 in the extracellular N-terminal p... | BeFree | 8493294 | Detail |
| 0.001 | Mental disorders | Although the DRD3 rs6280 (Ser9Gly) polymorphism plays an important role in vario... | BeFree | 24776816 | Detail |
| 0.004 | MAJOR AFFECTIVE DISORDER 4 | A serine to glycine substitution at position 9 in the extracellular N-terminal p... | BeFree | 8493294 | Detail |
| 0.007 | Dyskinetic syndrome | As recent observations indicate the dopamine D(3) receptor (DRD3) to modulate bo... | BeFree | 19353703 | Detail |
| <0.001 | Pain | DRD3 Ser9Gly polymorphism is related to thermal pain perception and modulation i... | BeFree | 19464960 | Detail |
| 0.037 | Tardive Dyskinesia | Two gene variants appeared to be significant after adding them to the clinical r... | BeFree | 16160620 | Detail |
| 0.264 | schizophrenia | We investigated whether the efficacy of aripiprazole can be predicted by a funct... | BeFree | 19302829 | Detail |
| 0.264 | schizophrenia | In this study we examined the relationship between dopamine D2 receptor (DRD2) p... | BeFree | 18496209 | Detail |
| 0.264 | schizophrenia | Genetic association between the dopamine D3 receptor gene polymorphism (Ser9Gly)... | BeFree | 22172931 | Detail |
| 0.004 | MAJOR AFFECTIVE DISORDER 9 | A serine to glycine substitution at position 9 in the extracellular N-terminal p... | BeFree | 8493294 | Detail |
| 0.007 | Dyskinetic syndrome | Chinese Han patients with schizophrenia were assessed for abnormal involuntary m... | BeFree | 12960753 | Detail |
| <0.001 | Motor Disorders | The association between the dopamine D3 receptor (DRD3) ser9gly genetic polymorp... | BeFree | 15626824 | Detail |
| <0.001 | Impaired cognition | Dopamine receptor D3 genetic polymorphism (rs6280TC) is associated with rates of... | BeFree | 21491142 | Detail |
| 0.003 | Personality Disorders | The Gly9,Gly9 genotype of the DRD3 Ser9Gly polymorphism was associated with incr... | BeFree | 12860355 | Detail |
| 0.037 | Tardive Dyskinesia | Genetic association between the dopamine D3 receptor gene polymorphism (Ser9Gly)... | BeFree | 22172931 | Detail |
| 0.032 | lingual-facial-buccal dyskinesia | Association between the Ser9Gly polymorphism of the dopamine D3 receptor gene an... | BeFree | 11490179 | Detail |
| 0.126 | Gilles de la Tourette syndrome | Association between Tourette syndrome and the dopamine D3 receptor gene rs6280. | BeFree | 25698199 | Detail |
| 0.004 | MAJOR AFFECTIVE DISORDER 8 | A serine to glycine substitution at position 9 in the extracellular N-terminal p... | BeFree | 8493294 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) AND Schizophrenia, susceptibility to | ClinVar | Detail |
| NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) AND Essential tremor, susceptibility to | ClinVar | Detail |
| NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) AND Tremor, hereditary essential, 1 | ClinVar | Detail |
| NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) AND not specified | ClinVar | Detail |
| NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) AND DRD3-related disorder | ClinVar | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... | DisGeNET | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... | DisGeNET | Detail |
| Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... | DisGeNET | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... | DisGeNET | Detail |
| Search for these determinants has led to a few consensus associations of CYP2D6 *10, CYP1A2*1F, DRD2... | DisGeNET | Detail |
| Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... | DisGeNET | Detail |
| Val158Met (rs4680, COMT), Taq IA (rs1800497, DRD2) and Ser9Gly (rs6280; DRD3) polymorphisms were ana... | DisGeNET | Detail |
| Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
| Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
| Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
| Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
| This study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) ... | DisGeNET | Detail |
| This study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) ... | DisGeNET | Detail |
| This study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) ... | DisGeNET | Detail |
| We investigate the association of the polymorphism of the Ser311Cys and Ser9Gly of the dopamine D2 (... | DisGeNET | Detail |
| This study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) ... | DisGeNET | Detail |
| The GTA haplotype frequency in the block (rs324029, rs6280, rs9825563) was significantly associated ... | DisGeNET | Detail |
| We provide initial evidence that the BDNF Val66Met and DRD3 Ser9Gly genotypes interact only in bipol... | DisGeNET | Detail |
| In this first phase of the project, the objective was to investigate the distribution of four candid... | DisGeNET | Detail |
| We provide initial evidence that the BDNF Val66Met and DRD3 Ser9Gly genotypes interact only in bipol... | DisGeNET | Detail |
| In this first phase of the project, the objective was to investigate the distribution of four candid... | DisGeNET | Detail |
| Could HTR2A T102C and DRD3 Ser9Gly predict clinical improvement in patients with acutely exacerbated... | DisGeNET | Detail |
| Could HTR2A T102C and DRD3 Ser9Gly predict clinical improvement in patients with acutely exacerbated... | DisGeNET | Detail |
| In the absence of genetic data from Indian population, we evaluated genetic association of three pol... | DisGeNET | Detail |
| Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain... | DisGeNET | Detail |
| Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain... | DisGeNET | Detail |
| Functional polymorphisms in the serotonin transporter (5-HTTLPR), catechol-O-methyltransferase (Val1... | DisGeNET | Detail |
| Functional polymorphisms in the serotonin transporter (5-HTTLPR), catechol-O-methyltransferase (Val1... | DisGeNET | Detail |
| These exploratory findings suggest that DRD3 Ser9Gly and COMT Val158Met may contribute to pain heter... | DisGeNET | Detail |
| Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain... | DisGeNET | Detail |
| Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain... | DisGeNET | Detail |
| Functional polymorphisms in the serotonin transporter (5-HTTLPR), catechol-O-methyltransferase (Val1... | DisGeNET | Detail |
| These exploratory findings suggest that DRD3 Ser9Gly and COMT Val158Met may contribute to pain heter... | DisGeNET | Detail |
| Antipsychotic-induced tardive dyskinesia and the Ser9Gly polymorphism in the DRD3 gene: a meta analy... | DisGeNET | Detail |
| Two gene variants appeared to be significant after adding them to the clinical regression models: (1... | DisGeNET | Detail |
| A serine to glycine substitution at position 9 in the extracellular N-terminal part of the dopamine ... | DisGeNET | Detail |
| To investigate the association between orofaciolingual (TDof) and limb-truncal dyskinesias (TDlt) an... | DisGeNET | Detail |
| Pharmacogenetics of tardive dyskinesia: combined analysis of 780 patients supports association with ... | DisGeNET | Detail |
| Association of the Ser9Gly polymorphism in the dopamine D3 receptor gene with tardive dyskinesia in ... | DisGeNET | Detail |
| DRD3 gene rs6280 polymorphism may be associated with alcohol dependence overall and with Lesch type ... | DisGeNET | Detail |
| The DRD3 rs6280 polymorphism and prevalence of tardive dyskinesia: a meta-analysis. | DisGeNET | Detail |
| Association of the Ser9Gly polymorphism in the dopamine D3 receptor gene with tardive dyskinesia in ... | DisGeNET | Detail |
| In order to clarify the role of DRD3 alterations in the aetiology of disease, we have investigated t... | DisGeNET | Detail |
| Antipsychotic-induced tardive dyskinesia and the Ser9Gly polymorphism in the DRD3 gene: a meta analy... | DisGeNET | Detail |
| Dopamine D3 receptor gene Ser9Gly variant and schizophrenia: association study and meta-analysis. | DisGeNET | Detail |
| Thus, a number of studies have focused on the association of dopamine system gene polymorphisms and ... | DisGeNET | Detail |
| This study investigated the possible relationship between TD and the polymorphisms Ser9Gly (DRD3), 1... | DisGeNET | Detail |
| Two gene variants appeared to be significant after adding them to the clinical regression models: (1... | DisGeNET | Detail |
| The dopamine D3 receptor (DRD3) Ser9Gly polymorphism and schizophrenia: a haplotype relative risk st... | DisGeNET | Detail |
| To investigate the association between orofaciolingual (TDof) and limb-truncal dyskinesias (TDlt) an... | DisGeNET | Detail |
| Thus, a number of studies have focused on the association of dopamine system gene polymorphisms and ... | DisGeNET | Detail |
| [A functional polymorphism, rs6280, in DRD3 is significantly associated with nicotine dependence in ... | DisGeNET | Detail |
| Association between the Ser9Gly polymorphism of the dopamine D3 receptor gene and tardive dyskinesia... | DisGeNET | Detail |
| Dopamine receptor D3 genetic polymorphism (rs6280TC) is associated with rates of cognitive impairmen... | DisGeNET | Detail |
| A serine to glycine substitution at position 9 in the extracellular N-terminal part of the dopamine ... | DisGeNET | Detail |
| No association between the DRD3 Ser9Gly polymorphism and schizophrenia. | DisGeNET | Detail |
| Allelic association between a Ser-9-Gly polymorphism in the dopamine D3 receptor gene and schizophre... | DisGeNET | Detail |
| A transmission disequilibrium test of the Ser9/Gly dopamine D3 receptor gene polymorphism in adult a... | DisGeNET | Detail |
| Meta-analysis of the influence of DRD3 Ser9Gly variant on susceptibility for essential tremor. | DisGeNET | Detail |
| Stepwise regression analysis revealed no effect of DRD3 Ser9Gly on chorea, dystonia, or motor fluctu... | DisGeNET | Detail |
| We suggest that the DRD3 Ser9Gly polymorphism may be a contributing factor to the performance of eye... | DisGeNET | Detail |
| A serine to glycine substitution at position 9 in the extracellular N-terminal part of the dopamine ... | DisGeNET | Detail |
| No association between the Ser9Gly polymorphism of the dopamine D3 receptor gene and schizophrenia i... | DisGeNET | Detail |
| Overall, our results suggest that the DRD3 Ser9Gly polymorphism may not confer susceptibility to SCZ... | DisGeNET | Detail |
| Pharmacogenetics of tardive dyskinesia: combined analysis of 780 patients supports association with ... | DisGeNET | Detail |
| Recently, an association between the dopamine D(3) receptor (DRD3) Ser9Gly polymorphism and ET has b... | DisGeNET | Detail |
| Our data suggest that essential tremor patients have a higher risk of lifetime migraine than do cont... | DisGeNET | Detail |
| To investigate the association between orofaciolingual (TDof) and limb-truncal dyskinesias (TDlt) an... | DisGeNET | Detail |
| A functional polymorphism, rs6280, in DRD3 is significantly associated with nicotine dependence in E... | DisGeNET | Detail |
| Genetic association between the dopamine D3 receptor gene polymorphism (Ser9Gly) and tardive dyskine... | DisGeNET | Detail |
| The Ser9Gly polymorphism of the dopamine D3 receptor gene and risk of schizophrenia: an association ... | DisGeNET | Detail |
| This study investigated the possible relationship between TD and the polymorphisms Ser9Gly (DRD3), 1... | DisGeNET | Detail |
| Proposed schizophrenia-related gene polymorphism: expression of the Ser9Gly mutant human dopamine D3... | DisGeNET | Detail |
| A serine to glycine substitution at position 9 in the extracellular N-terminal part of the dopamine ... | DisGeNET | Detail |
| Eighty-eight acutely ill patients with schizophrenia or schizoaffective disorder were genotyped for ... | DisGeNET | Detail |
| A serine to glycine substitution at position 9 in the extracellular N-terminal part of the dopamine ... | DisGeNET | Detail |
| Our data suggest that essential tremor patients have a higher risk of lifetime migraine than do cont... | DisGeNET | Detail |
| The DRD3 rs6280 polymorphism and prevalence of tardive dyskinesia: a meta-analysis. | DisGeNET | Detail |
| A serine to glycine substitution at position 9 in the extracellular N-terminal part of the dopamine ... | DisGeNET | Detail |
| Although the DRD3 rs6280 (Ser9Gly) polymorphism plays an important role in various psychiatric disor... | DisGeNET | Detail |
| A serine to glycine substitution at position 9 in the extracellular N-terminal part of the dopamine ... | DisGeNET | Detail |
| As recent observations indicate the dopamine D(3) receptor (DRD3) to modulate both therapeutic actio... | DisGeNET | Detail |
| DRD3 Ser9Gly polymorphism is related to thermal pain perception and modulation in chronic widespread... | DisGeNET | Detail |
| Two gene variants appeared to be significant after adding them to the clinical regression models: (1... | DisGeNET | Detail |
| We investigated whether the efficacy of aripiprazole can be predicted by a functional DRD3 gene poly... | DisGeNET | Detail |
| In this study we examined the relationship between dopamine D2 receptor (DRD2) polymorphisms (TaqIA,... | DisGeNET | Detail |
| Genetic association between the dopamine D3 receptor gene polymorphism (Ser9Gly) and tardive dyskine... | DisGeNET | Detail |
| A serine to glycine substitution at position 9 in the extracellular N-terminal part of the dopamine ... | DisGeNET | Detail |
| Chinese Han patients with schizophrenia were assessed for abnormal involuntary movements, and subgro... | DisGeNET | Detail |
| The association between the dopamine D3 receptor (DRD3) ser9gly genetic polymorphism and tardive dys... | DisGeNET | Detail |
| Dopamine receptor D3 genetic polymorphism (rs6280TC) is associated with rates of cognitive impairmen... | DisGeNET | Detail |
| The Gly9,Gly9 genotype of the DRD3 Ser9Gly polymorphism was associated with increased rates of obses... | DisGeNET | Detail |
| Genetic association between the dopamine D3 receptor gene polymorphism (Ser9Gly) and tardive dyskine... | DisGeNET | Detail |
| Association between the Ser9Gly polymorphism of the dopamine D3 receptor gene and tardive dyskinesia... | DisGeNET | Detail |
| Association between Tourette syndrome and the dopamine D3 receptor gene rs6280. | DisGeNET | Detail |
| A serine to glycine substitution at position 9 in the extracellular N-terminal part of the dopamine ... | 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
- rs6280 dbSNP
- Genome
- hg38
- Position
- chr3:114,171,968-114,171,968
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1157
- Mean of sample read depth (HGVD)
- 27.43
- Standard deviation of sample read depth (HGVD)
- 13.24
- Number of reference allele (HGVD)
- 654
- Number of alternative allele (HGVD)
- 1660
- Allele Frequency (HGVD)
- 0.7173725151253241
- Gene Symbol (HGVD)
- DRD3
- 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))
- rs6280
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7262
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12171
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 5492
- East Asian Allele Counts (ExAC)
- 3892
- East Asian Heterozygous Counts (ExAC)
- 1224
- East Asian Homozygous Counts (ExAC)
- 1334
- East Asian Allele Frequency (ExAC)
- 0.708667152221413
- Chromosome Counts in All Race (ExAC)
- 73308
- Allele Counts in All Race (ExAC)
- 48151
- Heterozygous Counts in All Race (ExAC)
- 17671
- Homozygous Counts in All Race (ExAC)
- 15240
- Allele Frequency in All Race (ExAC)
- 0.6568314508648442
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