chr11:113294976:T>C Detail (hg19) (DRD2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:113,294,976-113,294,976 |
hg38 | chr11:113,424,254-113,424,254 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_016574.3:c.285+113A>G | |
NM_000795.3:c.285+113A>G | ||
Ensemble | ENST00000544518.5:c.289+109A>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 |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-06-18 | criteria provided, single submitter | not provided |
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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
Descrption | Source | Links |
---|---|---|
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
- hg19
- Position
- chr11:113,294,976-113,294,976
- 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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