chr5:174870150:C>T Detail (hg19) (DRD1)

Information

Genome

Assembly Position
hg19 chr5:174,870,150-174,870,150
hg38 chr5:175,443,147-175,443,147 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000794.3:c.-48G>A
Ensemble ENST00000393752.3:c.-48G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.889
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.857

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 126449 OMIM
HGNC 3020 HGNC
Ensembl ENSG00000184845 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23823117 TogoVar
COSMIC
MONDO
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
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.152 schizophrenia One hundred thirty one outpatients in stable remission meeting the DSMIV criteri... BeFree 17455212 Detail
0.291 schizophrenia One hundred thirty one outpatients in stable remission meeting the DSMIV criteri... BeFree 17455212 Detail
0.010 Alcoholic Intoxication, Chronic In the absence of genetic data from Indian population, we evaluated genetic asso... BeFree 24135011 Detail
0.136 bipolar disorder Dopamine receptor D1 gene -48A/G polymorphism is associated with bipolar illness... BeFree 16397404 Detail
<0.001 Major affective disorder 7 In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in ... BeFree 16397404 Detail
0.136 bipolar disorder Genetic association between three DRD1 single nucleotide polymorphisms (SNPs) (-... BeFree 17066478 Detail
<0.001 MAJOR AFFECTIVE DISORDER 1 In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in ... BeFree 16397404 Detail
0.152 schizophrenia We investigated the association of dopamine receptor D1 gene (DRD1) rs4532 polym... BeFree 23036699 Detail
0.003 Psychotic Disorders No association was found between DRD1 A-48G polymorphism and MAP abuse and MAP p... BeFree 16594948 Detail
<0.001 MAJOR AFFECTIVE DISORDER 5 In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in ... BeFree 16397404 Detail
<0.001 MAJOR AFFECTIVE DISORDER 6 In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in ... BeFree 16397404 Detail
0.001 Nonorganic psychosis No association was found between DRD1 A-48G polymorphism and MAP abuse and MAP p... BeFree 16594948 Detail
<0.001 MAJOR AFFECTIVE DISORDER 8 In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in ... BeFree 16397404 Detail
<0.001 MAJOR AFFECTIVE DISORDER 2 In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in ... BeFree 16397404 Detail
0.152 schizophrenia Dopamine receptor D1 gene -48A/G polymorphism is associated with bipolar illness... BeFree 16397404 Detail
<0.001 MAJOR AFFECTIVE DISORDER 9 In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in ... BeFree 16397404 Detail
<0.001 MAJOR AFFECTIVE DISORDER 4 In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in ... BeFree 16397404 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000794.5(DRD1):c.-48G>A AND not specified ClinVar Detail
One hundred thirty one outpatients in stable remission meeting the DSMIV criteria for schizophrenia ... DisGeNET Detail
One hundred thirty one outpatients in stable remission meeting the DSMIV criteria for schizophrenia ... DisGeNET Detail
In the absence of genetic data from Indian population, we evaluated genetic association of three pol... DisGeNET Detail
Dopamine receptor D1 gene -48A/G polymorphism is associated with bipolar illness but not with schizo... DisGeNET Detail
In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in patients with schizo... DisGeNET Detail
Genetic association between three DRD1 single nucleotide polymorphisms (SNPs) (-800T/C, -48A/G, and ... DisGeNET Detail
In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in patients with schizo... DisGeNET Detail
We investigated the association of dopamine receptor D1 gene (DRD1) rs4532 polymorphism with antipsy... DisGeNET Detail
No association was found between DRD1 A-48G polymorphism and MAP abuse and MAP psychosis. DisGeNET Detail
In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in patients with schizo... DisGeNET Detail
In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in patients with schizo... DisGeNET Detail
No association was found between DRD1 A-48G polymorphism and MAP abuse and MAP psychosis. DisGeNET Detail
In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in patients with schizo... DisGeNET Detail
In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in patients with schizo... DisGeNET Detail
Dopamine receptor D1 gene -48A/G polymorphism is associated with bipolar illness but not with schizo... DisGeNET Detail
In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in patients with schizo... DisGeNET Detail
In the present study, the -48A/G polymorphism of the DRD1 gene was estimated in patients with schizo... 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
rs4532 dbSNP
Genome
hg19
Position
chr5:174,870,150-174,870,150
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))
rs4532
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8892
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14903
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8572
East Asian Allele Counts (ExAC)
7350
East Asian Heterozygous Counts (ExAC)
1054
East Asian Homozygous Counts (ExAC)
3148
East Asian Allele Frequency (ExAC)
0.8574428371441903
Chromosome Counts in All Race (ExAC)
113270
Allele Counts in All Race (ExAC)
77031
Heterozygous Counts in All Race (ExAC)
23591
Homozygous Counts in All Race (ExAC)
26720
Allele Frequency in All Race (ExAC)
0.680065330625938
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