chr2:233757935:C>T Detail (hg38) (UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:234,666,581-234,666,581 View the variant detail on this assembly version. |
| hg38 | chr2:233,757,935-233,757,935 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019075.2:c.856-9099C>T | |
| Ensemble | ENST00000344644.10:c.856-9099C>T | |
| ENST00000373445.1:c.856-9099C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019093.2:c.868-9099C>T | |
| Ensemble | ENST00000482026.6:c.868-9099C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_007120.2:c.868-9099C>T | |
| Ensemble | ENST00000373409.8:c.868-9099C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019078.1:c.868-9099C>T | |
| Ensemble | ENST00000373414.4:c.868-9099C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001072.3:c.862-9099C>T | |
| NM_205862.1:c.61-9099C>T | ||
| Ensemble | ENST00000305139.11:c.862-9099C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019077.2:c.856-9099C>T | |
| Ensemble | ENST00000373426.4:c.856-9099C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_019076.4:c.856-9099C>T | |
| Ensemble | ENST00000373450.5:c.856-9099C>T |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021027.2:c.856-9099C>T | |
| Ensemble | ENST00000354728.5:c.856-9099C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.130 | |
| 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 | 606435 | OMIM |
| HGNC | 12531 | HGNC | |
| Ensembl | ENSG00000242515 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv10920686 | TogoVar |
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606428 | OMIM |
| HGNC | 12535 | HGNC | |
| Ensembl | ENSG00000288702 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv10920686 | TogoVar |
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606429 | OMIM |
| HGNC | 12536 | HGNC | |
| Ensembl | ENSG00000244474 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv10920686 | TogoVar |
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606430 | OMIM |
| HGNC | 12537 | HGNC | |
| Ensembl | ENSG00000288705 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv10920686 | TogoVar |
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606431 | OMIM |
| HGNC | 12538 | HGNC | |
| Ensembl | ENSG00000167165 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv10920686 | TogoVar |
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 606432 | OMIM |
| HGNC | 12539 | HGNC | |
| Ensembl | ENSG00000244122 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv10920686 | 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 |
|---|---|---|---|---|---|
| <0.001 | Aortic Aneurysm, Thoracic | We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... | BeFree | 25171434 | Detail |
| <0.001 | Aortic Aneurysm, Thoracic | We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... | BeFree | 25171434 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... | DisGeNET | Detail |
| We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs12052787 dbSNP
- Genome
- hg38
- Position
- chr2:233,757,935-233,757,935
- 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))
- rs12052787
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1301
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2181
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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