chr13:113773045:G>A Detail (hg19) (F7)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr13:113,773,045-113,773,045 |
hg38 | chr13:113,118,731-113,118,731 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000131.4:c.1124G>A | NP_000122.1:p.Arg375Gln |
NM_019616.3:c.1058G>A | NP_062562.1:p.Arg353Gln | |
NM_001267554.1:c.872G>A | NP_001254483.1:p.Arg291Gln |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.001 |
ToMMo:0.002 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2023-11-18 | criteria provided, single submitter | Inborn genetic diseases |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.001 | acute myocardial infarction | Associations of the known polymorphisms of the coagulation factor VII (FVII) gen... | BeFree | 12486862 | Detail |
<0.001 | acute myocardial infarction | Associations of the known polymorphisms of the coagulation factor VII (FVII) gen... | BeFree | 12486862 | Detail |
0.007 | WARFARIN SENSITIVITY (disorder) | Factor VII R353Q genetic polymorphism is associated with altered warfarin sensit... | BeFree | 22071881 | Detail |
0.017 | Cerebrovascular accident | Thus, we investigated the association between lacunar stroke and the FVII R353Q ... | BeFree | 9491271 | Detail |
0.055 | WARFARIN SENSITIVITY (disorder) | Factor VII R353Q genetic polymorphism is associated with altered warfarin sensit... | BeFree | 22071881 | Detail |
0.024 | Coronary heart disease | Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII c... | BeFree | 20086294 | Detail |
0.048 | myocardial infarction | The presence of the Gln allele in the Arg353Gln polymorphism in the FVII locus d... | BeFree | 17581323 | Detail |
0.003 | Acute coronary syndrome | Factor VII levels, R353Q and -323P0/10 Factor VII variants, and the risk of acut... | BeFree | 23275237 | Detail |
0.024 | Coronary heart disease | Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms t... | BeFree | 22932775 | Detail |
0.001 | Factor V Leiden mutation | Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V... | BeFree | 17003923 | Detail |
0.014 | Cardiovascular Diseases | In order to determine the role of two polymorphisms in the factor VII gene (R353... | BeFree | 11578716 | Detail |
0.014 | Cardiovascular Diseases | The combined RQ and RR genotypes of factor VII R353Q were correlated to a reduce... | BeFree | 11397354 | Detail |
0.001 | Factor V Leiden mutation | Individuals belonging to six different Amerindian tribes and two African groups ... | BeFree | 14689519 | Detail |
<0.001 | Factor V Leiden mutation | Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V... | BeFree | 17003923 | Detail |
0.001 | acute myocardial infarction | In order to determine the role of two polymorphisms in the factor VII gene (R353... | BeFree | 11578716 | Detail |
0.019 | Factor V Leiden mutation | Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V... | BeFree | 17003923 | Detail |
0.080 | diabetes mellitus | To examine the R353Q polymorphism of the FVII gene and the relation to myocardia... | BeFree | 15081566 | Detail |
0.015 | coronary artery disease | Association between R353Q polymorphism for coagulative factor VII and severity o... | BeFree | 24469878 | Detail |
0.023 | Coronary Arteriosclerosis | The aim of the study was to assess whether Factor VII polymorphism R353Q is asso... | BeFree | 15837082 | Detail |
0.023 | Coronary Arteriosclerosis | Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms t... | BeFree | 22932775 | Detail |
0.024 | Coronary heart disease | Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospho... | BeFree | 15081566 | Detail |
<0.001 | Factor V Leiden mutation | Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V... | BeFree | 17003923 | Detail |
0.462 | myocardial infarction | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
0.015 | coronary artery disease | The factor II(G20210A) ,V(G1691A) mutation is absent and may not be a major gene... | BeFree | 12765295 | Detail |
0.024 | Coronary heart disease | Association between R353Q polymorphism for coagulative factor VII and severity o... | BeFree | 24469878 | Detail |
0.088 | Diabetes Mellitus, Non-Insulin-Dependent | Genetic influence of the R/Q353 genotype on factor VII activity is overwhelmed b... | BeFree | 9686915 | Detail |
0.019 | Factor V Leiden mutation | Individuals belonging to six different Amerindian tribes and two African groups ... | BeFree | 14689519 | Detail |
<0.001 | Factor V Leiden mutation | Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V... | BeFree | 17003923 | Detail |
0.023 | Coronary Arteriosclerosis | Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of c... | BeFree | 18398422 | Detail |
0.048 | myocardial infarction | The prevalence of the beta-fibrinogen -455G/A and -148C/T, and the factor VII 10... | BeFree | 16049588 | Detail |
0.023 | Coronary Arteriosclerosis | Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospho... | BeFree | 15081566 | Detail |
<0.001 | Stable angina | A protective contribution of the Q allele of the R353Q polymorphism of the Facto... | BeFree | 15837082 | Detail |
0.005 | Factor V Leiden mutation | Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V... | BeFree | 17003923 | Detail |
0.082 | Factor V Leiden mutation | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
0.048 | myocardial infarction | Factor VII Arg/Gln353 polymorphism determines factor VII coagulant activity in p... | BeFree | 8929253 | Detail |
0.022 | Myocardial Ischemia | The R353Q genotype is a major determinant of factor VII coagulant (FVIIc) activi... | BeFree | 9989683 | Detail |
0.006 | obesity | Weight-loss induced changes in plasma factor VII coagulant activity and relation... | BeFree | 9569193 | Detail |
<0.001 | Factor V Leiden mutation | Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V... | BeFree | 17003923 | Detail |
0.017 | Cerebrovascular accident | Circulating levels of Factor VII:C are determined by R353Q genotype and cluster ... | BeFree | 12529745 | Detail |
0.048 | myocardial infarction | The factor II(G20210A) ,V(G1691A) mutation is absent and may not be a major gene... | BeFree | 12765295 | Detail |
0.015 | coronary artery disease | Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII c... | BeFree | 20086294 | Detail |
<0.001 | Dyslipidemias | The objective of this study was to verify whether the factor VII R353Q polymorph... | BeFree | 12851844 | Detail |
0.005 | Factor V Leiden mutation | Individuals belonging to six different Amerindian tribes and two African groups ... | BeFree | 14689519 | Detail |
0.069 | myocardial infarction | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
0.024 | Coronary heart disease | The aim of the study was to assess whether Factor VII polymorphism R353Q is asso... | BeFree | 15837082 | Detail |
<0.001 | Obesity, Visceral | Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B leve... | BeFree | 12851844 | Detail |
0.048 | myocardial infarction | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
0.005 | Factor V Leiden mutation | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
0.001 | Obesity, Visceral | Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B leve... | BeFree | 12851844 | Detail |
0.082 | Factor V Leiden mutation | Individuals belonging to six different Amerindian tribes and two African groups ... | BeFree | 14689519 | Detail |
0.048 | myocardial infarction | R353Q polymorphism, activated factor VII, and risk of premature myocardial infar... | BeFree | 15170085 | Detail |
0.024 | Coronary heart disease | Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of c... | BeFree | 18398422 | Detail |
0.023 | Coronary Arteriosclerosis | Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII c... | BeFree | 20086294 | Detail |
0.197 | myocardial infarction | Eight common polymorphisms of known myocardial infarction (MI) risk factors (fac... | BeFree | 18457169 | Detail |
0.023 | Coronary Arteriosclerosis | Association between R353Q polymorphism for coagulative factor VII and severity o... | BeFree | 24469878 | Detail |
0.015 | coronary artery disease | Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms t... | BeFree | 22932775 | Detail |
0.048 | myocardial infarction | To examine the R353Q polymorphism of the FVII gene and the relation to myocardia... | BeFree | 15081566 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_019616.4(F7):c.1058G>A (p.Arg353Gln) AND Inborn genetic diseases | ClinVar | Detail |
Associations of the known polymorphisms of the coagulation factor VII (FVII) gene (R353Q), the coagu... | DisGeNET | Detail |
Associations of the known polymorphisms of the coagulation factor VII (FVII) gene (R353Q), the coagu... | DisGeNET | Detail |
Factor VII R353Q genetic polymorphism is associated with altered warfarin sensitivity among CYP2C9 *... | DisGeNET | Detail |
Thus, we investigated the association between lacunar stroke and the FVII R353Q polymorphism in 137 ... | DisGeNET | Detail |
Factor VII R353Q genetic polymorphism is associated with altered warfarin sensitivity among CYP2C9 *... | DisGeNET | Detail |
Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII coagulant activity in... | DisGeNET | Detail |
The presence of the Gln allele in the Arg353Gln polymorphism in the FVII locus did not differ betwee... | DisGeNET | Detail |
Factor VII levels, R353Q and -323P0/10 Factor VII variants, and the risk of acute coronary syndrome ... | DisGeNET | Detail |
Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms to coronary artery di... | DisGeNET | Detail |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor ... | DisGeNET | Detail |
In order to determine the role of two polymorphisms in the factor VII gene (R353Q and intron 7 hyper... | DisGeNET | Detail |
The combined RQ and RR genotypes of factor VII R353Q were correlated to a reduced risk for CVD in 2,... | DisGeNET | Detail |
Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were g... | DisGeNET | Detail |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor ... | DisGeNET | Detail |
In order to determine the role of two polymorphisms in the factor VII gene (R353Q and intron 7 hyper... | DisGeNET | Detail |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor ... | DisGeNET | Detail |
To examine the R353Q polymorphism of the FVII gene and the relation to myocardial infarction (MI), c... | DisGeNET | Detail |
Association between R353Q polymorphism for coagulative factor VII and severity of coronary artery di... | DisGeNET | Detail |
The aim of the study was to assess whether Factor VII polymorphism R353Q is associated with the exte... | DisGeNET | Detail |
Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms to coronary artery di... | DisGeNET | Detail |
Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospholipids in males at h... | DisGeNET | Detail |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor ... | DisGeNET | Detail |
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
The factor II(G20210A) ,V(G1691A) mutation is absent and may not be a major genetic factor for CAD a... | DisGeNET | Detail |
Association between R353Q polymorphism for coagulative factor VII and severity of coronary artery di... | DisGeNET | Detail |
Genetic influence of the R/Q353 genotype on factor VII activity is overwhelmed by environmental fact... | DisGeNET | Detail |
Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were g... | DisGeNET | Detail |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor ... | DisGeNET | Detail |
Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of coronary heart diseas... | DisGeNET | Detail |
The prevalence of the beta-fibrinogen -455G/A and -148C/T, and the factor VII 10 bp 5' promoter inse... | DisGeNET | Detail |
Coagulation factor VII, R353Q polymorphism, and serum choline-containing phospholipids in males at h... | DisGeNET | Detail |
A protective contribution of the Q allele of the R353Q polymorphism of the Factor VII gene in indivi... | DisGeNET | Detail |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor ... | DisGeNET | Detail |
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
Factor VII Arg/Gln353 polymorphism determines factor VII coagulant activity in patients with myocard... | DisGeNET | Detail |
The R353Q genotype is a major determinant of factor VII coagulant (FVIIc) activity, which is associa... | DisGeNET | Detail |
Weight-loss induced changes in plasma factor VII coagulant activity and relation to the factor VII A... | DisGeNET | Detail |
Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor ... | DisGeNET | Detail |
Circulating levels of Factor VII:C are determined by R353Q genotype and cluster with other risk fact... | DisGeNET | Detail |
The factor II(G20210A) ,V(G1691A) mutation is absent and may not be a major genetic factor for CAD a... | DisGeNET | Detail |
Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII coagulant activity in... | DisGeNET | Detail |
The objective of this study was to verify whether the factor VII R353Q polymorphism contributes to p... | DisGeNET | Detail |
Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were g... | DisGeNET | Detail |
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
The aim of the study was to assess whether Factor VII polymorphism R353Q is associated with the exte... | DisGeNET | Detail |
Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B levels: impact of viscer... | DisGeNET | Detail |
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
Effect of the factor VII R353Q missense mutation on plasma apolipoprotein B levels: impact of viscer... | DisGeNET | Detail |
Individuals belonging to six different Amerindian tribes and two African groups of Costa Rica were g... | DisGeNET | Detail |
R353Q polymorphism, activated factor VII, and risk of premature myocardial infarction in Japanese me... | DisGeNET | Detail |
Factor VII, blood lipids and fat intake: gene-nutrient interaction and risk of coronary heart diseas... | DisGeNET | Detail |
Genotype-phenotype relationship of F7 R353Q polymorphism and plasma factor VII coagulant activity in... | DisGeNET | Detail |
Eight common polymorphisms of known myocardial infarction (MI) risk factors (factor V Leiden (FVL), ... | DisGeNET | Detail |
Association between R353Q polymorphism for coagulative factor VII and severity of coronary artery di... | DisGeNET | Detail |
Contribution of coagulation factor VII R353Q, -323P0/10 and HVR4 polymorphisms to coronary artery di... | DisGeNET | Detail |
To examine the R353Q polymorphism of the FVII gene and the relation to myocardial infarction (MI), c... | 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
- chr13:113,773,045-113,773,045
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 158.73
- Standard deviation of sample read depth (HGVD)
- 75.85
- Number of reference allele (HGVD)
- 2417
- Number of alternative allele (HGVD)
- 3
- Allele Frequency (HGVD)
- 0.0012396694214876034
- Gene Symbol (HGVD)
- F7
- 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))
- rs201058276
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0023
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 38
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16754
- East Asian Chromosome Counts (ExAC)
- 8548
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.169864295741694E-4
- Chromosome Counts in All Race (ExAC)
- 117810
- Allele Counts in All Race (ExAC)
- 7
- Heterozygous Counts in All Race (ExAC)
- 7
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.9417706476530004E-5
Genome browser