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rs1063856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1063856(A;G)
Make rs1063856(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6044368
GeneVWF
is asnp
is mentioned by
dbSNPrs1063856
ebirs1063856
HLIrs1063856
Exacrs1063856
Varsomers1063856
Maprs1063856
PheGenIrs1063856
hapmaprs1063856
1000 genomesrs1063856
hgdprs1063856
ensemblrs1063856
gopubmedrs1063856
geneviewrs1063856
scholarrs1063856
googlers1063856
pharmgkbrs1063856
gwascentralrs1063856
openSNPrs1063856
23andMers1063856
23andMe allrs1063856
SNP Nexus

SNPshotrs1063856
SNPdbers1063856
MSV3drs1063856
GWAS Ctlgrs1063856
GMAF0.343
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene VWF
allele C
frequency 0.342
sift TOLERATED
HuRef 1103649355708
Disease Association Defects in VWF are associated with various forms of von Willebrand disease (VWD) (MIM:193400, 277480). VWD is characterized by frequent bleeding (gingival, minor skin quantitative lacerations, menorrhagia, etc.). Type I VWD is associated with a deficiency of VWF; type II by normal to decreased plasma level of VWF; type III by a virtual absence of VWF. There are subtypes (A to H) of type II VWD; for example: type IIA is characterized by the absence of VWF high molecular weight multimers in plasma.



[PMID 22133274OA-icon.png] 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,G;C,G)
Alt rs1063856(C,G;C,G)
Reference rs1063856(A;A)
Significance Untested
Disease not provided
Variation info
Gene VWF
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.6153534T>G
CLNSRC Academic Unit of Haematology ClinVar
CLNACC RCV000086605.1,



[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 20346360OA-icon.png] Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.

[PMID 20565774OA-icon.png] 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.


GET Evidence
VWF-T789A
aa_change Thr789Ala
aa_change_short T789A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.431028
summary



GWAS snp
PMID [PMID 23267103OA-icon.png]
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