chr11:113281397:C>T Detail (hg19) (DRD2)

Information

Genome

Assembly Position
hg19 chr11:113,281,397-113,281,397
hg38 chr11:113,410,675-113,410,675 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000795.3:c.*52G>A
NM_016574.3:c.*52G>A
Ensemble ENST00000542968.5:c.*52G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.431
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 tgv44079791 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-18 criteria provided, single submitter not provided 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
0.002 Unipolar Depression Lack of influence of rs4680 (COMT) and rs6276 (DRD2) on diagnosis and clinical o... BeFree 24555772 Detail
0.007 major depressive disorder Lack of influence of rs4680 (COMT) and rs6276 (DRD2) on diagnosis and clinical o... BeFree 24555772 Detail
0.008 Unipolar Depression Lack of influence of rs4680 (COMT) and rs6276 (DRD2) on diagnosis and clinical o... BeFree 24555772 Detail
0.016 major depressive disorder Lack of influence of rs4680 (COMT) and rs6276 (DRD2) on diagnosis and clinical o... BeFree 24555772 Detail
0.122 Hypertensive disease Common single nucleotide polymorphisms (SNPs) rs6276, 6277, and 1800497 in the h... BeFree 25801876 Detail
<0.001 Alcohol Withdrawal Seizures However, we found a significant interaction effect of the SLC6A4 promoter polymo... BeFree 20002020 Detail
<0.001 Alcohol Withdrawal Seizures However, we found a significant interaction effect of the SLC6A4 promoter polymo... BeFree 20002020 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000795.4(DRD2):c.*52G>A AND not provided ClinVar Detail
Some common single-nucleotide polymorphisms (SNPs; rs6276, rs6277, and rs1800497) in the human DRD2 ... DisGeNET Detail
Lack of influence of rs4680 (COMT) and rs6276 (DRD2) on diagnosis and clinical outcomes in patients ... DisGeNET Detail
Lack of influence of rs4680 (COMT) and rs6276 (DRD2) on diagnosis and clinical outcomes in patients ... DisGeNET Detail
Lack of influence of rs4680 (COMT) and rs6276 (DRD2) on diagnosis and clinical outcomes in patients ... DisGeNET Detail
Lack of influence of rs4680 (COMT) and rs6276 (DRD2) on diagnosis and clinical outcomes in patients ... DisGeNET Detail
Common single nucleotide polymorphisms (SNPs) rs6276, 6277, and 1800497 in the human D2R gene are as... DisGeNET Detail
However, we found a significant interaction effect of the SLC6A4 promoter polymorphism (5-HTTLPR) an... DisGeNET Detail
However, we found a significant interaction effect of the SLC6A4 promoter polymorphism (5-HTTLPR) an... 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
rs6276 dbSNP
Genome
hg19
Position
chr11:113,281,397-113,281,397
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))
rs6276
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4307
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7217
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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