chr11:113414814:C>A Detail (hg38) (DRD2)

Information

Genome

Assembly Position
hg19 chr11:113,285,536-113,285,536 View the variant detail on this assembly version.
hg38 chr11:113,414,814-113,414,814

HGVS

Type Transcript Protein
RefSeq NM_016574.3:c.723+607G>T
NM_000795.3:c.724-353G>T
Ensemble ENST00000346454.7:c.723+607G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.383
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance 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 tgv44080067 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-15 criteria provided, single submitter Dystonic disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.010 Mental Depression Findings for DAT1 intron8 were also significant for two EMD subscales, generaliz... BeFree 24780147 Detail
0.024 Mental Depression Findings for DAT1 intron8 were also significant for two EMD subscales, generaliz... BeFree 24780147 Detail
0.155 attention deficit hyperactivity disorder DRD2 rs2283265 was associated with teachers' global ratings of ADHD (ηp(2)=.052)... BeFree 24780147 Detail
<0.001 anxiety generalized DAT1 intron8 was associated with parent-rated hyperactivity (ηp(2)=.045) and bot... BeFree 24780147 Detail
0.340 attention deficit hyperactivity disorder Three dopamine transporter gene (SLC6A3/DAT1) polymorphisms (intron8 5/6 VNTR, 3... BeFree 24780147 Detail
0.002 Inattention DAT1 intron8 was associated with parent-rated hyperactivity (ηp(2)=.045) and bot... BeFree 24780147 Detail
0.002 depressive disorder Findings for DAT1 intron8 were also significant for two EMD subscales, generaliz... BeFree 24780147 Detail
0.345 schizophrenia We assessed catechol-O-methyltransferase (COMT) Val108/158Met (rs4680) and dopam... BeFree 24495967 Detail
0.291 schizophrenia We assessed catechol-O-methyltransferase (COMT) Val108/158Met (rs4680) and dopam... BeFree 24495967 Detail
0.082 depressive disorder Findings for DAT1 intron8 were also significant for two EMD subscales, generaliz... BeFree 24780147 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000795.4(DRD2):c.724-353G>T AND Dystonic disorder ClinVar Detail
Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (ηp(2)=.0... DisGeNET Detail
Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (ηp(2)=.0... DisGeNET Detail
DRD2 rs2283265 was associated with teachers' global ratings of ADHD (ηp(2)=.052). DisGeNET Detail
DAT1 intron8 was associated with parent-rated hyperactivity (ηp(2)=.045) and both DAT1 9/10 VNTR (ηp... DisGeNET Detail
Three dopamine transporter gene (SLC6A3/DAT1) polymorphisms (intron8 5/6 VNTR, 3'-UTR 9/10 VNTR, rs2... DisGeNET Detail
DAT1 intron8 was associated with parent-rated hyperactivity (ηp(2)=.045) and both DAT1 9/10 VNTR (ηp... DisGeNET Detail
Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (ηp(2)=.0... DisGeNET Detail
We assessed catechol-O-methyltransferase (COMT) Val108/158Met (rs4680) and dopamine D2 receptor (DRD... DisGeNET Detail
We assessed catechol-O-methyltransferase (COMT) Val108/158Met (rs4680) and dopamine D2 receptor (DRD... DisGeNET Detail
Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (ηp(2)=.0... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2283265 dbSNP
Genome
hg38
Position
chr11:113,414,814-113,414,814
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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))
rs2283265
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3827
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6413
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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