chr11:636784:T>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr11:636,784-636,784
hg38 chr11:636,784-636,784 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.411
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.226 schizophrenia No association between dopamine D4 receptor gene -521 C/T polymorphism and tardi... BeFree 17556853 Detail
<0.001 Opiate Addiction Dopamine receptor D4 gene -521C/T polymorphism is associated with opioid depende... BeFree 18991844 Detail
0.329 attention deficit hyperactivity disorder A case-control association study of the polymorphism at the promoter region of t... BeFree 17850946 Detail
0.008 Tardive Dyskinesia No association between dopamine D4 receptor gene -521 C/T polymorphism and tardi... BeFree 17556853 Detail
0.014 Psychotic Disorders Linkage between the DRD4 and COMT genes and cognitive measures characterizing ve... BeFree 17763983 Detail
0.011 lingual-facial-buccal dyskinesia No association between dopamine D4 receptor gene -521 C/T polymorphism and tardi... BeFree 17556853 Detail
0.226 schizophrenia Linkage between the DRD4 and COMT genes and cognitive measures characterizing ve... BeFree 17763983 Detail
0.264 Anxiety Disorders No clear consensus on the role of any individual gene variant in personality mod... BeFree 24100617 Detail
<0.001 substance dependence Association between the -521 C/T SNP of the DRD4 promoter region and substance d... BeFree 16167465 Detail
0.002 Anxiety Disorders No clear consensus on the role of any individual gene variant in personality mod... BeFree 24100617 Detail
0.012 heroin dependence The dopamine receptor D4 gene (DRD4) is associated with heroin dependence; one o... BeFree 18991844 Detail
0.329 attention deficit hyperactivity disorder Gene-gene interaction analysis revealed significant additive effect of DBH rs110... BeFree 21216270 Detail
0.178 attention deficit hyperactivity disorder Gene-gene interaction analysis revealed significant additive effect of DBH rs110... BeFree 21216270 Detail
Annotation

Annotations

DescrptionSourceLinks
No association between dopamine D4 receptor gene -521 C/T polymorphism and tardive dyskinesia in sch... DisGeNET Detail
Dopamine receptor D4 gene -521C/T polymorphism is associated with opioid dependence through cold-pai... DisGeNET Detail
A case-control association study of the polymorphism at the promoter region of the DRD4 gene in Kore... DisGeNET Detail
No association between dopamine D4 receptor gene -521 C/T polymorphism and tardive dyskinesia in sch... DisGeNET Detail
Linkage between the DRD4 and COMT genes and cognitive measures characterizing verbal memory, executi... DisGeNET Detail
No association between dopamine D4 receptor gene -521 C/T polymorphism and tardive dyskinesia in sch... DisGeNET Detail
Linkage between the DRD4 and COMT genes and cognitive measures characterizing verbal memory, executi... DisGeNET Detail
No clear consensus on the role of any individual gene variant in personality modulation emerged, alt... DisGeNET Detail
Association between the -521 C/T SNP of the DRD4 promoter region and substance dependence was signif... DisGeNET Detail
No clear consensus on the role of any individual gene variant in personality modulation emerged, alt... DisGeNET Detail
The dopamine receptor D4 gene (DRD4) is associated with heroin dependence; one of its polymorphisms ... DisGeNET Detail
Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... DisGeNET Detail
Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... DisGeNET Detail
Gene
-
dbSNP
rs1800955 dbSNP
Genome
hg19
Position
chr11:636,784-636,784
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1800955
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4113
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6878
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16722
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