chr5:80065442:G>C Detail (hg38) (THBS4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:79,361,265-79,361,265 View the variant detail on this assembly version. |
| hg38 | chr5:80,065,442-80,065,442 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001306212.1:c.1159G>C | NP_001293141.1:p.Ala387Pro |
| NM_001306213.1:c.1159G>C | NP_001293142.1:p.Ala387Pro | |
| NM_003248.5:c.1159G>C | NP_003239.2:p.Ala387Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.076 |
| ToMMo:0.081 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.040 |
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 |
|---|---|---|---|---|---|
| 0.013 | myocardial infarction | Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S)... | BeFree | 12482844 | Detail |
| <0.001 | arteriosclerosis | In a recent large-scale genetic association study, a single nucleotide polymorph... | BeFree | 12952849 | Detail |
| 0.201 | Cardiovascular Diseases | Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... | BeFree | 22011848 | Detail |
| <0.001 | coronary artery disease | For the THBS-4 A387P polymorphism, additional studies are required to elucidate ... | BeFree | 12482844 | Detail |
| 0.094 | myocardial infarction | Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S)... | BeFree | 12482844 | Detail |
| 0.013 | myocardial infarction | Thrombospondin-4 1186G>C (A387P) is a sex-dependent risk factor for myocardia... | BeFree | 16923428 | Detail |
| 0.008 | Cardiovascular Diseases | Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... | BeFree | 22011848 | Detail |
| 0.013 | myocardial infarction | Replication of the association between the thrombospondin-4 A387P polymorphism a... | BeFree | 15131549 | Detail |
| <0.001 | Cardiovascular Diseases | Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... | BeFree | 22011848 | Detail |
| <0.001 | coronary artery disease | Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S)... | BeFree | 12482844 | Detail |
| 0.003 | atherosclerosis | In a recent large-scale genetic association study, a single nucleotide polymorph... | BeFree | 12952849 | Detail |
| 0.013 | myocardial infarction | A missense variant of thrombospondin 4 (A387P) showed the strongest association,... | BeFree | 11723011 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T>G sub... | DisGeNET | Detail |
| In a recent large-scale genetic association study, a single nucleotide polymorphism in the thrombosp... | DisGeNET | Detail |
| Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... | DisGeNET | Detail |
| For the THBS-4 A387P polymorphism, additional studies are required to elucidate its role in prematur... | DisGeNET | Detail |
| Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T>G sub... | DisGeNET | Detail |
| Thrombospondin-4 1186G>C (A387P) is a sex-dependent risk factor for myocardial infarction: a larg... | DisGeNET | Detail |
| Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... | DisGeNET | Detail |
| Replication of the association between the thrombospondin-4 A387P polymorphism and myocardial infarc... | DisGeNET | Detail |
| Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... | DisGeNET | Detail |
| Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T>G sub... | DisGeNET | Detail |
| In a recent large-scale genetic association study, a single nucleotide polymorphism in the thrombosp... | DisGeNET | Detail |
| A missense variant of thrombospondin 4 (A387P) showed the strongest association, with an adjusted od... | 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
- chr5:80,065,442-80,065,442
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 97.31
- Standard deviation of sample read depth (HGVD)
- 44.49
- Number of reference allele (HGVD)
- 2235
- Number of alternative allele (HGVD)
- 185
- Allele Frequency (HGVD)
- 0.07644628099173553
- Gene Symbol (HGVD)
- THBS4
- 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))
- rs1866389
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0813
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1363
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 346
- East Asian Heterozygous Counts (ExAC)
- 330
- East Asian Homozygous Counts (ExAC)
- 8
- East Asian Allele Frequency (ExAC)
- 0.03998151143979663
- Chromosome Counts in All Race (ExAC)
- 121390
- Allele Counts in All Race (ExAC)
- 21645
- Heterozygous Counts in All Race (ExAC)
- 17289
- Homozygous Counts in All Race (ExAC)
- 2178
- Allele Frequency in All Race (ExAC)
- 0.17830958069033692
Genome browser