{{Rsnum
|rsid=1063856
|Gene=VWF
|Chromosome=12
|position=6044368
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.343
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=VWF
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 42.9 | 46.4 | 10.7
| HCB | 89.1 | 10.2 | 0.7
| JPT | 85.0 | 14.2 | 0.9
| YRI | 13.6 | 40.1 | 46.3
| ASW | 14.3 | 50.0 | 35.7
| CHB | 89.1 | 10.2 | 0.7
| CHD | 85.3 | 13.8 | 0.9
| GIH | 67.3 | 28.7 | 4.0
| LWK | 14.5 | 42.7 | 42.7
| MEX | 60.3 | 36.2 | 3.4
| MKK | 29.5 | 46.2 | 24.4
| TSI | 42.2 | 44.1 | 13.7
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1063856
|allele=C
|frequency=0.342
|uid=1103649355708
|type=heterozygous_SNP
|hugo=VWF
|ensembl gene=ENSG00000110799
|ensembl transcript=ENST00000261405
|sift=TOLERATED
|disease=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 Auto
|PMID=22133274
|Title=Polymorphisms of PAI-1 and platelet GP Ia may associate with impairment of renal function and thrombocytopenia in Puumala hantavirus infection
|OA=1
}}

{{ClinVar
|rsid=1063856
|Reversed=1
|FwdREF=A
|FwdALT=C,G
|REF=T
|ALT=C,G
|RSPOS=6153534
|CHROM=12
|GMAF=0.3429
|dbSNPBuildID=86
|SSR=0
|SAO=0
|VP=0x05016800000015051f120101
|GENEINFO=VWF:7450
|GENE_NAME=VWF
|GENE_ID=7450
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000012.11:g.6153534T>G
|CLNSIG=1
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP
|CAF=0.657; 0.343; .
|COMMON=1
|CLNACC=RCV000086605.1
|CLNDBN=not provided
|CLNSRC=Academic Unit of Haematology
|CLNSRCID=VWF_2365
|Disease=not provided
}}

{{PMID|19379518|OA=1
}} Development of a fingerprinting panel using medically relevant polymorphisms.

{{PMID|20346360|OA=1
}} Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.

{{PMID|20565774|OA=1
}} 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
|gene=VWF
|aa_change=Thr789Ala
|aa_change_short=T789A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1063856
|overall_frequency_n=4637
|overall_frequency_d=10758
|overall_frequency=0.431028
|n_genomes=39
|n_genomes_annotated=0
|n_haplomes=58
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.004
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=1
}}

{{PMID Auto GWAS
  |PMID=23267103
  |Trait=Coagulation factor levels
  |Title=Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
  |RiskAllele=A
  |Pval=5E-16
  |OR=.12
  |ORtxt=[0.091-0.149] lU/dL decrease
  |OA=1
}}

{{PMID Auto
|PMID=22858724
|Title=IL1B and VWF variants are associated with fibrinolytic early recanalization in patients with ischemic stroke.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}