chr3:114181373:A>G Detail (hg38) (DRD3)

Information

Genome

Assembly Position
hg19 chr3:113,900,220-113,900,220 View the variant detail on this assembly version.
hg38 chr3:114,181,373-114,181,373

HGVS

Type Transcript Protein
RefSeq NM_001282563.2:c.-155-2597T>C
Ensemble ENST00000460779.5:c.-155-2597T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.247
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
Type Database ID Link
Gene MIM 126451 OMIM
HGNC 3024 HGNC
Ensembl ENSG00000151577 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv13820423 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 heroin dependence The GTA haplotype frequency in the block (rs324029, rs6280, rs9825563) was signi... BeFree 24398431 Detail
Annotation

Annotations

DescrptionSourceLinks
The GTA haplotype frequency in the block (rs324029, rs6280, rs9825563) was significantly associated ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9825563 dbSNP
Genome
hg38
Position
chr3:114,181,373-114,181,373
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs9825563
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2472
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4143
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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