{{Rsnum
|rsid=34230288
|Gene=VWF
|Chromosome=12
|position=5993928
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=T
|GMAF=0.009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=VWF
}}{{Venter SNP
|rsid=34230288
|allele=A
|frequency=
|uid=1103649355553
|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.
}}

{{GET Evidence
|gene=VWF
|aa_change=Ala2178Ser
|aa_change_short=A2178S
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs34230288
|overall_frequency_n=170
|overall_frequency_d=10758
|overall_frequency=0.0158022
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.381
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=4
|n_web_uneval=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}