rs1063856
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1063856(A;G) |
Make rs1063856(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 6044368 |
Gene | VWF |
is a | snp |
is | mentioned by |
dbSNP | rs1063856 |
dbSNP (classic) | rs1063856 |
ClinGen | rs1063856 |
ebi | rs1063856 |
HLI | rs1063856 |
Exac | rs1063856 |
Gnomad | rs1063856 |
Varsome | rs1063856 |
LitVar | rs1063856 |
Map | rs1063856 |
PheGenI | rs1063856 |
Biobank | rs1063856 |
1000 genomes | rs1063856 |
hgdp | rs1063856 |
ensembl | rs1063856 |
geneview | rs1063856 |
scholar | rs1063856 |
rs1063856 | |
pharmgkb | rs1063856 |
gwascentral | rs1063856 |
openSNP | rs1063856 |
23andMe | rs1063856 |
SNPshot | rs1063856 |
SNPdbe | rs1063856 |
MSV3d | rs1063856 |
GWAS Ctlg | rs1063856 |
GMAF | 0.343 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 22133274] Polymorphisms of PAI-1 and platelet GP Ia may associate with impairment of renal function and thrombocytopenia in Puumala hantavirus infection
ClinVar | |
---|---|
Risk | rs1063856(C;C) rs1063856(G;G) |
Alt | rs1063856(C;C) rs1063856(G;G) |
Reference | Rs1063856(A;A) |
Significance | Probable-non-pathogenic |
Disease | not specified von Willebrand disorder not provided |
Variation | info |
Gene | VWF |
CLNDBN | not specified von Willebrand disorder not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.6153534T>C; NC_000012.11:g.6153534T>G |
CLNSRC | Academic Unit of Haematology ClinVar |
CLNACC | RCV000250620.1, RCV000266084.1, RCV000086605.1, |
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 20346360] Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 21534939] Genetic variants associated with Von Willebrand factor levels in healthy men and women identified using the HumanCVD BeadChip.
[PMID 22568520] von Willebrand factor plasma levels, genetic variations and coronary heart disease in an older population.
GWAS snp | |
---|---|
PMID | [PMID 23267103] |
Trait | Coagulation factor levels |
Title | Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. |
Risk Allele | A |
P-val | 5E-16 |
Odds Ratio | .12 [0.091-0.149] lU/dL decrease |
[PMID 22858724] IL1B and VWF variants are associated with fibrinolytic early recanalization in patients with ischemic stroke.
[PMID 25779970] Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans