{{Rsnum
|rsid=1800378
|Gene=VWF
|Chromosome=12
|position=6063036
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4775
|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 | 19.5 | 44.2 | 36.3
| HCB | 8.8 | 38.2 | 52.9
| JPT | 13.3 | 51.3 | 35.4
| YRI | 81.5 | 17.8 | 0.7
| ASW | 57.9 | 38.6 | 3.5
| CHB | 8.8 | 38.2 | 52.9
| CHD | 8.3 | 37.6 | 54.1
| GIH | 5.0 | 36.6 | 58.4
| LWK | 64.5 | 30.9 | 4.5
| MEX | 25.9 | 51.7 | 22.4
| MKK | 34.8 | 50.3 | 14.8
| TSI | 9.8 | 43.1 | 47.1
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1800378
|allele=C
|frequency=0.638
|uid=1103649355761
|type=homozygous_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.
}}

{{GET Evidence
|gene=VWF
|aa_change=His484Arg
|aa_change_short=H484R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800378
|overall_frequency_n=5415
|overall_frequency_d=10756
|overall_frequency=0.50344
|n_genomes=37
|n_genomes_annotated=0
|n_haplomes=51
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|pph2_score=0.83
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=3
|n_web_uneval=1
}}

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