chr11:113424254:T>C Detail (hg38) (DRD2)

Information

Genome

Assembly Position
hg19 chr11:113,294,976-113,294,976 View the variant detail on this assembly version.
hg38 chr11:113,424,254-113,424,254

HGVS

Type Transcript Protein
RefSeq NM_016574.3:c.285+113A>G
NM_000795.3:c.285+113A>G
Ensemble ENST00000346454.7:c.285+113A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.058
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 tgv44080407 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
0.345 schizophrenia Our results demonstrated initial significant associations of two SNPs for DRD2 (... BeFree 19207030 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000795.4(DRD2):c.285+113A>G AND not provided ClinVar Detail
Our results demonstrated initial significant associations of two SNPs for DRD2 (rs11608185, genotype... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11608185 dbSNP
Genome
hg38
Position
chr11:113,424,254-113,424,254
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))
rs11608185
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0581
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
973
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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