chr11:113412762:G>C Detail (hg38) (DRD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:113,283,484-113,283,484 View the variant detail on this assembly version. |
| hg38 | chr11:113,412,762-113,412,762 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_016574.3:c.845C>G | NP_057658.2:p.Ser282Cys |
| NM_000795.3:c.932C>G | NP_000786.1:p.Ser311Cys | |
| Ensemble | ENST00000346454.7:c.845C>G | ENST00000346454.7:p.Ser282Cys |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.033 |
| ToMMo:0.041 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.036 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2016-02-29 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2024-01-24 | criteria provided, single submitter | Dystonic disorder |
germline
|
Detail |
|
Benign
|
2021-06-10 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.178 | attention deficit hyperactivity disorder | We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs... | BeFree | 24163823 | Detail |
| 0.291 | schizophrenia | Association between DRD2 (rs1799732 and rs1801028) and ANKK1 (rs1800497) polymor... | BeFree | 25504812 | Detail |
| 0.009 | schizophrenia | Association between DRD2 (rs1799732 and rs1801028) and ANKK1 (rs1800497) polymor... | BeFree | 25504812 | Detail |
| 0.152 | schizophrenia | One hundred thirty one outpatients in stable remission meeting the DSMIV criteri... | BeFree | 17455212 | Detail |
| 0.004 | Mental disorders | Case-control studies in 291 schizophrenics, 78 patients with affective disorders... | BeFree | 8723039 | Detail |
| 0.291 | schizophrenia | Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... | BeFree | 15802092 | Detail |
| 0.291 | schizophrenia | Further association study on dopamine D2 receptor variant S311C in schizophrenia... | BeFree | 8723039 | Detail |
| 0.010 | Mood Disorders | Further association study on dopamine D2 receptor variant S311C in schizophrenia... | BeFree | 8723039 | Detail |
| 0.291 | schizophrenia | Linkage and association of a functional DRD2 variant [Ser311Cys] and DRD2 marker... | BeFree | 9259374 | Detail |
| 0.016 | Tardive Dyskinesia | This study tested the association between tardive dyskinesia (TD) and polymorphi... | BeFree | 16160620 | Detail |
| <0.001 | delusional disorder | (3) The genotype frequency of the DRD2 gene Ser311Cys was significantly higher i... | BeFree | 12007750 | Detail |
| 0.291 | schizophrenia | The Cys allele of the DRD2 Ser311Cys polymorphism has a dominant effect on risk ... | BeFree | 18715757 | Detail |
| 0.291 | schizophrenia | One hundred thirty one outpatients in stable remission meeting the DSMIV criteri... | BeFree | 17455212 | Detail |
| <0.001 | Neurobehavioral Manifestations | The dopamine D2 receptor (DRD2) Ser311Cys polymorphism may also play a role in d... | BeFree | 15882132 | Detail |
| 0.329 | attention deficit hyperactivity disorder | Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... | BeFree | 15802092 | Detail |
| 0.014 | neuroleptic malignant syndrome | We therefore investigated the association between NMS and three functional polym... | BeFree | 15094790 | Detail |
| 0.001 | Nonorganic psychosis | Neither the DRD2 S311C polymorphism nor the presence of long alleles for the DRD... | BeFree | 9779662 | Detail |
| 0.019 | lingual-facial-buccal dyskinesia | This study tested the association between tardive dyskinesia (TD) and polymorphi... | BeFree | 16160620 | Detail |
| 0.155 | attention deficit hyperactivity disorder | Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... | BeFree | 15802092 | Detail |
| 0.291 | schizophrenia | Advanced research on dopamine signaling to develop drugs for the treatment of me... | BeFree | 20716857 | Detail |
| 0.106 | obesity | Association of dopamine D2 receptor polymorphisms Ser311Cys and TaqIA with obesi... | BeFree | 11093282 | Detail |
| 0.291 | schizophrenia | Ser-311-Cys polymorphism of the dopamine D2 receptor gene and schizophrenia--an ... | BeFree | 9339651 | Detail |
| 0.291 | schizophrenia | Dopamine receptor D2 Ser/Cys311 variant associated with disorganized symptomatol... | BeFree | 9850987 | Detail |
| 0.291 | schizophrenia | No association of the Ser/Cys311 DRD2 molecular variant with schizophrenia using... | BeFree | 9187010 | Detail |
| <0.001 | diabetes mellitus | Two single nucleotide polymorphisms (SNPs), Ser311Cys and TaqIA, within the DRD2... | BeFree | 11093282 | Detail |
| 0.004 | Substance abuse problem | A functionally deficient DRD2 variant [Ser311Cys] is not linked to alcoholism an... | BeFree | 9650635 | Detail |
| 0.204 | Alcoholic Intoxication, Chronic | Linkage and association of a functional DRD2 variant [Ser311Cys] and DRD2 marker... | BeFree | 9259374 | Detail |
| 0.006 | Psychotic Disorders | Neither the DRD2 S311C polymorphism nor the presence of long alleles for the DRD... | BeFree | 9779662 | Detail |
| 0.014 | Psychotic Disorders | Neither the DRD2 S311C polymorphism nor the presence of long alleles for the DRD... | BeFree | 9779662 | Detail |
| 0.006 | Diabetes Mellitus, Non-Insulin-Dependent | Association of dopamine D2 receptor polymorphisms Ser311Cys and TaqIA with obesi... | BeFree | 11093282 | Detail |
| 0.003 | Nonorganic psychosis | Neither the DRD2 S311C polymorphism nor the presence of long alleles for the DRD... | BeFree | 9779662 | Detail |
| 0.029 | attention deficit hyperactivity disorder | Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... | BeFree | 15802092 | Detail |
| 0.023 | bipolar disorder | One hundred twenty-four depressed inpatients affected by bipolar disorder (DSM-I... | BeFree | 12834818 | Detail |
| 0.023 | bipolar disorder | One hundred twenty-four depressed inpatients affected by bipolar disorder (DSM-I... | BeFree | 12834818 | Detail |
| <0.001 | lingual-facial-buccal dyskinesia | This study tested the association between tardive dyskinesia (TD) and polymorphi... | BeFree | 16160620 | Detail |
| 0.291 | schizophrenia | Mismatch PCR RFLP detection of DRD2 Ser311Cys polymorphism and schizophrenia. | BeFree | 7914079 | Detail |
| 0.291 | schizophrenia | Association between Ser311Cys polymorphism in the dopamine D2 receptor gene and ... | BeFree | 22370928 | Detail |
| 0.291 | schizophrenia | Dopamine D2 receptor gene Ser311Cys variant and schizophrenia: association study... | BeFree | 12707934 | Detail |
| <0.001 | Delusions | Dopamine receptor D2 Ser/Cys 311 variant is associated with delusion and disorga... | BeFree | 10889529 | Detail |
| 0.204 | Alcoholic Intoxication, Chronic | A functionally deficient DRD2 variant [Ser311Cys] is not linked to alcoholism an... | BeFree | 9650635 | Detail |
| 0.006 | Psychotic Disorders | Dopamine receptor D2 Ser/Cys 311 variant is associated with delusion and disorga... | BeFree | 10889529 | Detail |
| 0.291 | schizophrenia | We investigate the association of the polymorphism of the Ser311Cys and Ser9Gly ... | BeFree | 12497614 | Detail |
| 0.341 | schizophrenia | Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cy... | BeFree | 15802092 | Detail |
| <0.001 | Diabetes | Two single nucleotide polymorphisms (SNPs), Ser311Cys and TaqIA, within the DRD2... | BeFree | 11093282 | Detail |
| <0.001 | Tardive Dyskinesia | This study tested the association between tardive dyskinesia (TD) and polymorphi... | BeFree | 16160620 | Detail |
| 0.106 | obesity | The Taq IA and Ser311 Cys polymorphisms in the dopamine D2 receptor gene and obe... | BeFree | 12848308 | Detail |
| <0.001 | Drug habituation | According to this practical and scientific demand, we aimed to investigate the r... | BeFree | 20421849 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000795.4(DRD2):c.932C>G (p.Ser311Cys) AND not specified | ClinVar | Detail |
| NM_000795.4(DRD2):c.932C>G (p.Ser311Cys) AND Dystonic disorder | ClinVar | Detail |
| NM_000795.4(DRD2):c.932C>G (p.Ser311Cys) AND not provided | ClinVar | Detail |
| We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs1800496, rs1801028, ... | DisGeNET | Detail |
| Association between DRD2 (rs1799732 and rs1801028) and ANKK1 (rs1800497) polymorphisms and schizophr... | DisGeNET | Detail |
| Association between DRD2 (rs1799732 and rs1801028) and ANKK1 (rs1800497) polymorphisms and schizophr... | DisGeNET | Detail |
| One hundred thirty one outpatients in stable remission meeting the DSMIV criteria for schizophrenia ... | DisGeNET | Detail |
| Case-control studies in 291 schizophrenics, 78 patients with affective disorders, and 579 controls o... | DisGeNET | Detail |
| Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... | DisGeNET | Detail |
| Further association study on dopamine D2 receptor variant S311C in schizophrenia and affective disor... | DisGeNET | Detail |
| Further association study on dopamine D2 receptor variant S311C in schizophrenia and affective disor... | DisGeNET | Detail |
| Linkage and association of a functional DRD2 variant [Ser311Cys] and DRD2 markers to alcoholism, sub... | DisGeNET | Detail |
| This study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) ... | DisGeNET | Detail |
| (3) The genotype frequency of the DRD2 gene Ser311Cys was significantly higher in patients with pers... | DisGeNET | Detail |
| The Cys allele of the DRD2 Ser311Cys polymorphism has a dominant effect on risk for schizophrenia: e... | DisGeNET | Detail |
| One hundred thirty one outpatients in stable remission meeting the DSMIV criteria for schizophrenia ... | DisGeNET | Detail |
| The dopamine D2 receptor (DRD2) Ser311Cys polymorphism may also play a role in determining risperido... | DisGeNET | Detail |
| Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... | DisGeNET | Detail |
| We therefore investigated the association between NMS and three functional polymorphisms of the dopa... | DisGeNET | Detail |
| Neither the DRD2 S311C polymorphism nor the presence of long alleles for the DRD4 exon III repeat se... | DisGeNET | Detail |
| This study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) ... | DisGeNET | Detail |
| Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... | DisGeNET | Detail |
| Advanced research on dopamine signaling to develop drugs for the treatment of mental disorders: Ser3... | DisGeNET | Detail |
| Association of dopamine D2 receptor polymorphisms Ser311Cys and TaqIA with obesity or type 2 diabete... | DisGeNET | Detail |
| Ser-311-Cys polymorphism of the dopamine D2 receptor gene and schizophrenia--an analysis of schizoph... | DisGeNET | Detail |
| Dopamine receptor D2 Ser/Cys311 variant associated with disorganized symptomatology of schizophrenia... | DisGeNET | Detail |
| No association of the Ser/Cys311 DRD2 molecular variant with schizophrenia using a classical case co... | DisGeNET | Detail |
| Two single nucleotide polymorphisms (SNPs), Ser311Cys and TaqIA, within the DRD2 gene were genotyped... | DisGeNET | Detail |
| A functionally deficient DRD2 variant [Ser311Cys] is not linked to alcoholism and substance abuse. | DisGeNET | Detail |
| Linkage and association of a functional DRD2 variant [Ser311Cys] and DRD2 markers to alcoholism, sub... | DisGeNET | Detail |
| Neither the DRD2 S311C polymorphism nor the presence of long alleles for the DRD4 exon III repeat se... | DisGeNET | Detail |
| Neither the DRD2 S311C polymorphism nor the presence of long alleles for the DRD4 exon III repeat se... | DisGeNET | Detail |
| Association of dopamine D2 receptor polymorphisms Ser311Cys and TaqIA with obesity or type 2 diabete... | DisGeNET | Detail |
| Neither the DRD2 S311C polymorphism nor the presence of long alleles for the DRD4 exon III repeat se... | DisGeNET | Detail |
| Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... | DisGeNET | Detail |
| One hundred twenty-four depressed inpatients affected by bipolar disorder (DSM-IV) were treated with... | DisGeNET | Detail |
| One hundred twenty-four depressed inpatients affected by bipolar disorder (DSM-IV) were treated with... | DisGeNET | Detail |
| This study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) ... | DisGeNET | Detail |
| Mismatch PCR RFLP detection of DRD2 Ser311Cys polymorphism and schizophrenia. | DisGeNET | Detail |
| Association between Ser311Cys polymorphism in the dopamine D2 receptor gene and schizophrenia risk: ... | DisGeNET | Detail |
| Dopamine D2 receptor gene Ser311Cys variant and schizophrenia: association study and meta-analysis. | DisGeNET | Detail |
| Dopamine receptor D2 Ser/Cys 311 variant is associated with delusion and disorganization symptomatol... | DisGeNET | Detail |
| A functionally deficient DRD2 variant [Ser311Cys] is not linked to alcoholism and substance abuse. | DisGeNET | Detail |
| Dopamine receptor D2 Ser/Cys 311 variant is associated with delusion and disorganization symptomatol... | DisGeNET | Detail |
| We investigate the association of the polymorphism of the Ser311Cys and Ser9Gly of the dopamine D2 (... | DisGeNET | Detail |
| Meta-analyses of pooled ORs support association of schizophrenia to the Ser311Cys polymorphism in DR... | DisGeNET | Detail |
| Two single nucleotide polymorphisms (SNPs), Ser311Cys and TaqIA, within the DRD2 gene were genotyped... | DisGeNET | Detail |
| This study tested the association between tardive dyskinesia (TD) and polymorphic variations in (a) ... | DisGeNET | Detail |
| The Taq IA and Ser311 Cys polymorphisms in the dopamine D2 receptor gene and obesity. | DisGeNET | Detail |
| According to this practical and scientific demand, we aimed to investigate the relationship between ... | 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
- rs1801028 dbSNP
- Genome
- hg38
- Position
- chr11:113,412,762-113,412,762
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1199
- Mean of sample read depth (HGVD)
- 46.92
- Standard deviation of sample read depth (HGVD)
- 18.24
- Number of reference allele (HGVD)
- 2320
- Number of alternative allele (HGVD)
- 78
- Allele Frequency (HGVD)
- 0.03252710592160134
- Gene Symbol (HGVD)
- DRD2
- 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))
- rs1801028
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0412
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 691
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 307
- East Asian Heterozygous Counts (ExAC)
- 289
- East Asian Homozygous Counts (ExAC)
- 9
- East Asian Allele Frequency (ExAC)
- 0.035515964831096716
- Chromosome Counts in All Race (ExAC)
- 121226
- Allele Counts in All Race (ExAC)
- 3202
- Heterozygous Counts in All Race (ExAC)
- 3056
- Homozygous Counts in All Race (ExAC)
- 73
- Allele Frequency in All Race (ExAC)
- 0.02641347565703727
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