chr5:175443193:C>T Detail (hg38) (DRD1)

Information

Genome

Assembly Position
hg19 chr5:174,870,196-174,870,196 View the variant detail on this assembly version.
hg38 chr5:175,443,193-175,443,193

HGVS

Type Transcript Protein
RefSeq NM_000794.3:c.-94G>A
Ensemble ENST00000393752.3:c.-94G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.294
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 126449 OMIM
HGNC 3020 HGNC
Ensembl ENSG00000184845 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23823118 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
0.003 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.006 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.013 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.024 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.003 Hypertensive disease Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17... BeFree 23133444 Detail
0.005 neuroblastoma NA GAD Detail
0.003 heroin dependence The study results are in accordance with the results of previous studies, includ... BeFree 25875614 Detail
<0.001 bipolar I disorder Significant interactions between polymorphisms of rs5326 in DRD1 gene and phenot... BeFree 25233244 Detail
Annotation

Annotations

DescrptionSourceLinks
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4... DisGeNET Detail
NA DisGeNET Detail
The study results are in accordance with the results of previous studies, including our report of as... DisGeNET Detail
Significant interactions between polymorphisms of rs5326 in DRD1 gene and phenotype (affected or una... 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
rs5326 dbSNP
Genome
hg38
Position
chr5:175,443,193-175,443,193
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))
rs5326
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.294
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4928
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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