rs4065
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4065(C;T) |
| Make rs4065(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 73916706 |
| Gene | C10orf55, PLAU |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4065 |
| dbSNP (classic) | rs4065 |
| ClinGen | rs4065 |
| ebi | rs4065 |
| HLI | rs4065 |
| Exac | rs4065 |
| Gnomad | rs4065 |
| Varsome | rs4065 |
| LitVar | rs4065 |
| Map | rs4065 |
| PheGenI | rs4065 |
| Biobank | rs4065 |
| 1000 genomes | rs4065 |
| hgdp | rs4065 |
| ensembl | rs4065 |
| geneview | rs4065 |
| scholar | rs4065 |
| rs4065 | |
| pharmgkb | rs4065 |
| gwascentral | rs4065 |
| openSNP | rs4065 |
| 23andMe | rs4065 |
| SNPshot | rs4065 |
| SNPdbe | rs4065 |
| MSV3d | rs4065 |
| GWAS Ctlg | rs4065 |
| GMAF | 0.4178 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20937265] Association of polymorphisms in the genes of the urokinase plasminogen activation system with susceptibility to and severity of non-small cell lung cancer
[PMID 21761413] Genetic polymorphism of the plasminogen activator inhibitor-1 is associated with an increased risk of endometrial cancer
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 16967469] Association of tagSNPs in the urokinase-plasminogen activator (PLAU) gene with Alzheimer's disease and associated quantitative traits.
[PMID 17363771] Association of urokinase-type plasminogen activator with asthma and atopy.
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
[PMID 17994220] Association between urokinase haplotypes and outcome from infection-associated acute lung injury.
[PMID 18076107] Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.
[PMID 18988861] Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.
[PMID 19001172] Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci.
[PMID 20518747] Association of putative functional variants in the PLAU gene and the PLAUR gene with myocardial infarction.
| ClinVar | |
|---|---|
| Risk | rs4065(T;T) |
| Alt | rs4065(T;T) |
| Reference | Rs4065(C;C) |
| Significance | Non-pathogenic |
| Disease | Quebec platelet disorder |
| Variation | info |
| Gene | PLAU C10orf55 |
| CLNDBN | Quebec platelet disorder |
| Reversed | 0 |
| HGVS | NC_000010.10:g.75676464C>T |
| CLNSRC | |
| CLNACC | RCV000261471.1, |
