chr11:113329774:A>C Detail (hg19) (DRD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:113,329,774-113,329,774 |
| hg38 | chr11:113,459,052-113,459,052 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000795.3:c.-32+16024T>G | |
| NM_016574.3:c.-32+16024T>G | ||
| Ensemble | ENST00000362072.8:c.-32+16024T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.562 | |
| 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 | |
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 |
| <0.001 | Phobia, Social | Single nucleotide polymorphisms in two genes showed some evidence for associatio... | BeFree | 20122683 | Detail |
| <0.001 | Phobia, Social | Single nucleotide polymorphisms in two genes showed some evidence for associatio... | BeFree | 20122683 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Several SNPs (rs7131056, rs4274224, rs4648318, and rs6278) in DRD2, along with the Taq IA polymorphi... | DisGeNET | Detail |
| Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: ... | DisGeNET | Detail |
| Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7131056 dbSNP
- Genome
- hg19
- Position
- chr11:113,329,774-113,329,774
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs7131056
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5617
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9413
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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