chr11:113283459:G>A Detail (hg19) (DRD2)

Information

Genome

Assembly Position
hg19 chr11:113,283,459-113,283,459
hg38 chr11:113,412,737-113,412,737 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_016574.3:c.870C>T NP_057658.2:p.Pro290=
NM_000795.3:c.957C>T NP_000786.1:p.Pro319=
Ensemble ENST00000346454.7:c.870C>T ENST00000346454.7:p.Pro290=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.056
ToMMo:0.058
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.057

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 126450 OMIM
HGNC 3023 HGNC
Ensembl ENSG00000149295 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44079931 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2018-03-09 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-02-01 criteria provided, single submitter Dystonic disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Hypertensive disease Some common single-nucleotide polymorphisms (SNPs; rs6276, rs6277, and rs1800497... BeFree 24379187 Detail
<0.001 INTELLIGENCE QUANTITATIVE TRAIT LOCUS 1 The DRD2 C:C genotype of rs6277 was associated with decreased general cognitive ... BeFree 20567893 Detail
0.007 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.014 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
<0.001 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.002 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.006 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.003 Marijuana Abuse Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms ... BeFree 24407958 Detail
0.002 Unipolar Depression Dopamine 2 receptor gene (DRD2) polymorphism C957T (rs6277) and cathechol-o-meth... BeFree 18929622 Detail
0.007 major depressive disorder Dopamine 2 receptor gene (DRD2) polymorphism C957T (rs6277) and cathechol-o-meth... BeFree 18929622 Detail
0.007 post-traumatic stress disorder [The DRD2 gene 957C>T polymorphism is associated with posttraumatic stress disor... GAD 18833581 Detail
0.291 schizophrenia Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277... BeFree 19158809 Detail
<0.001 Drug habituation According to this practical and scientific demand, we aimed to investigate the r... BeFree 20421849 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000795.4(DRD2):c.957C>T (p.Pro319=) AND not specified ClinVar Detail
NM_000795.4(DRD2):c.957C>T (p.Pro319=) AND Dystonic disorder ClinVar Detail
Some common single-nucleotide polymorphisms (SNPs; rs6276, rs6277, and rs1800497) in the human DRD2 ... DisGeNET Detail
The DRD2 C:C genotype of rs6277 was associated with decreased general cognitive ability 'g' (p = 0.0... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Here, we made a preliminary screening among ten Single Nucleotide Polymorphisms (SNP) of the CNR1 (r... DisGeNET Detail
Dopamine 2 receptor gene (DRD2) polymorphism C957T (rs6277) and cathechol-o-methyltransferase (COMT)... DisGeNET Detail
Dopamine 2 receptor gene (DRD2) polymorphism C957T (rs6277) and cathechol-o-methyltransferase (COMT)... DisGeNET Detail
[The DRD2 gene 957C>T polymorphism is associated with posttraumatic stress disorder in war veterans.... DisGeNET Detail
Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only... 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
rs6277 dbSNP
Genome
hg19
Position
chr11:113,283,459-113,283,459
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1191
Mean of sample read depth (HGVD)
56.34
Standard deviation of sample read depth (HGVD)
21.25
Number of reference allele (HGVD)
2249
Number of alternative allele (HGVD)
133
Allele Frequency (HGVD)
0.05583543240973971
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))
rs6277
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0581
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
974
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Homozygous Counts (ExAC)
13
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
489
East Asian Heterozygous Counts (ExAC)
463
East Asian Allele Frequency (ExAC)
0.05654486586493987
Chromosome Counts in All Race (ExAC)
121348
Allele Counts in All Race (ExAC)
50453
Heterozygous Counts in All Race (ExAC)
25551
Homozygous Counts in All Race (ExAC)
12451
Allele Frequency in All Race (ExAC)
0.4157711705178495
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