chr6:6318795:C>T Detail (hg19) (F13A1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:6,318,795-6,318,795 |
| hg38 | chr6:6,318,562-6,318,562 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000129.3:c.103G>A | NP_000120.2:p.Val35Met |
| Ensemble | ENST00000264870.8:c.103G>A | ENST00000264870.8:p.Val35Met |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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 |
|---|---|---|---|---|---|
| 0.107 | colorectal cancer | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.011 | colorectal cancer | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.004 | colorectal carcinoma | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.005 | colorectal cancer | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| <0.001 | colorectal carcinoma | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.026 | colorectal carcinoma | Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs179988... | BeFree | 21422408 | Detail |
| 0.155 | myocardial infarction | We therefore performed genotyping for factor XIIIA Val34Leu, Tyr204Phe and Pro56... | BeFree | 11841441 | Detail |
| <0.001 | arteriosclerosis | Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disea... | BeFree | 11834540 | Detail |
| 0.006 | pulmonary embolism | Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patien... | BeFree | 12958613 | Detail |
| 0.010 | Coronary heart disease | A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has bee... | BeFree | 11941274 | Detail |
| 0.008 | pulmonary embolism | Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patien... | BeFree | 12958613 | Detail |
| <0.001 | Coronary Arteriosclerosis | A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has bee... | BeFree | 11941274 | Detail |
| 0.008 | atherosclerosis | Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disea... | BeFree | 11834540 | Detail |
| <0.001 | Coronary Arteriosclerosis | Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disea... | BeFree | 11834540 | Detail |
| 0.013 | coronary artery disease | A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has bee... | BeFree | 11941274 | Detail |
| 0.010 | Coronary heart disease | Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disea... | BeFree | 11834540 | Detail |
| 0.003 | Deep Vein Thrombosis | A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has bee... | BeFree | 11941274 | Detail |
| <0.001 | Thromboembolism | Factor XIIIA-V34L and factor XIIIB-H95R in venous thromboembolism in central Ira... | BeFree | 24509329 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T ... | DisGeNET | Detail |
| We therefore performed genotyping for factor XIIIA Val34Leu, Tyr204Phe and Pro564Leu in a population... | DisGeNET | Detail |
| Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclero... | DisGeNET | Detail |
| Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patients with objectively ... | DisGeNET | Detail |
| A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a ... | DisGeNET | Detail |
| Frequency of the TAFI -438 G/A and factor XIIIA Val34Leu polymorphisms in patients with objectively ... | DisGeNET | Detail |
| A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a ... | DisGeNET | Detail |
| Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclero... | DisGeNET | Detail |
| Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclero... | DisGeNET | Detail |
| A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a ... | DisGeNET | Detail |
| Factor XIIIA Val34Leu polymorphism does not predict risk of coronary heart disease: The Atherosclero... | DisGeNET | Detail |
| A common polymorphism in the gene for factor XIII A subunit (F13A1 V34L) has been associated with a ... | DisGeNET | Detail |
| Factor XIIIA-V34L and factor XIIIB-H95R in venous thromboembolism in central Iran: protective and ne... | 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
- hg19
- Position
- chr6:6,318,795-6,318,795
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 845
- Mean of sample read depth (HGVD)
- 10.62
- Standard deviation of sample read depth (HGVD)
- 17.97
- Number of reference allele (HGVD)
- 1689
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 5.91715976331361E-4
- Gene Symbol (HGVD)
- F13A1
- 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))
- rs5985
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0004
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Homozygous Counts in All Race (ExAC)
- 0
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3121387283236994E-4
- Chromosome Counts in All Race (ExAC)
- 121372
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Allele Frequency in All Race (ExAC)
- 3.2956530336486173E-5
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