chr12:10986253:C>T Detail (hg38) (TAS2R50, PRH1-PRR4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:11,138,852-11,138,852 View the variant detail on this assembly version. |
| hg38 | chr12:10,986,253-10,986,253 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000703543.1:c.-125-12532G>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_176890.2:c.608G>A | NP_795371.2:p.Cys203Tyr |
| Ensemble | ENST00000506868.1:c.608G>A | ENST00000506868.1:p.Cys203Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.766 |
| ToMMo:0.750 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.752 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | |||
| Ensembl | ENSG00000275778 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv44954560 | 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 | myocardial infarction | We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... | BeFree | 19709766 | Detail |
| 0.008 | myocardial infarction | We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... | BeFree | 19709766 | Detail |
| 0.005 | myocardial infarction | We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... | BeFree | 19709766 | Detail |
| 0.010 | myocardial infarction | We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... | BeFree | 19709766 | Detail |
| 0.003 | Coronary heart disease | Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 geno... | BeFree | 22192511 | Detail |
| 0.010 | Coronary heart disease | Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 geno... | BeFree | 22192511 | Detail |
| 0.008 | myocardial infarction | [Identification of four gene variants associated with myocardial infarction.] | GAD | 16175505 | Detail |
| 0.025 | Coronary heart disease | Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 geno... | BeFree | 22192511 | Detail |
| 0.010 | Coronary heart disease | Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20... | BeFree | 22192511 | Detail |
| 0.001 | Coronary heart disease | Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20... | BeFree | 22192511 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... | DisGeNET | Detail |
| We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... | DisGeNET | Detail |
| We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... | DisGeNET | Detail |
| We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... | DisGeNET | Detail |
| Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 genotypes are not useful... | DisGeNET | Detail |
| Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 genotypes are not useful... | DisGeNET | Detail |
| [Identification of four gene variants associated with myocardial infarction.] | DisGeNET | Detail |
| Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 genotypes are not useful... | DisGeNET | Detail |
| Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20455 or 719Arg), LPA ... | DisGeNET | Detail |
| Single nucleotide polymorphisms (SNPs) at the KIF6 (kinesin like protein 6, rs20455 or 719Arg), LPA ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr12:10,986,253-10,986,253
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 59.18
- Standard deviation of sample read depth (HGVD)
- 32.86
- Number of reference allele (HGVD)
- 567
- Number of alternative allele (HGVD)
- 1853
- Allele Frequency (HGVD)
- 0.765702479338843
- Gene Symbol (HGVD)
- TAS2R50
- 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))
- rs1376251
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7501
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12571
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 6505
- East Asian Heterozygous Counts (ExAC)
- 1613
- East Asian Homozygous Counts (ExAC)
- 2446
- East Asian Allele Frequency (ExAC)
- 0.7523710386305806
- Chromosome Counts in All Race (ExAC)
- 121366
- Allele Counts in All Race (ExAC)
- 48155
- Heterozygous Counts in All Race (ExAC)
- 25959
- Homozygous Counts in All Race (ExAC)
- 11098
- Allele Frequency in All Race (ExAC)
- 0.39677504408153846
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