chr11:113442667:T>C Detail (hg38) (DRD2)

Information

Genome

Assembly Position
hg19 chr11:113,313,389-113,313,389 View the variant detail on this assembly version.
hg38 chr11:113,442,667-113,442,667

HGVS

Type Transcript Protein
RefSeq NM_016574.3:c.-31-17985A>G
NM_000795.3:c.-31-17985A>G
Ensemble ENST00000346454.7:c.-31-17985A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.604
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 126450 OMIM
HGNC 3023 HGNC
Ensembl ENSG00000149295 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44080858 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
0.005 nicotine dependence Several SNPs (rs7131056, rs4274224, rs4648318, and rs6278) in DRD2, along with t... BeFree 18354387 Detail
Annotation

Annotations

DescrptionSourceLinks
Several SNPs (rs7131056, rs4274224, rs4648318, and rs6278) in DRD2, along with the Taq IA polymorphi... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4648318 dbSNP
Genome
hg38
Position
chr11:113,442,667-113,442,667
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs4648318
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6037
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10116
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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