{{Rsnum
|rsid=41276738
|Gene=VWF
|Chromosome=12
|position=6034812
|Orientation=plus
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=VWF
}}{{omim
|id=613160
|rsnum=41276738
|variant=0013
}}

{{ClinVar
|rsid=41276738
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=6143978
|CHROM=12
|GMAF=0.0014
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050160000000040516110100
|GENEINFO=VWF:7450
|GENE_NAME=VWF
|GENE_ID=7450
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.6143978C>T
|CLNSRC=Academic Unit of Haematology; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=VWF_2561; 613160.0013; 613160.0014
|CLNSIG=5
|CLNCUI=C1282975; C1264039
|CLNDBN=von Willebrand disease type 2N; von Willebrand disease type 1; not provided
|Disease=von Willebrand disease type 2N; von Willebrand disease type 1; not provided
|CLNACC=RCV000000320.1; RCV000000321.1; RCV000086620.1
|Tags=PM;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=MedGen:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C1282975:359732009; NBK7014:C1264039:193400:166078:903:128106003
|COMMON=0
}}

{{GET Evidence
|gene=VWF
|aa_change=Arg854Gln
|aa_change_short=R854Q
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Likely pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs41276738
|overall_frequency_n=44
|overall_frequency_d=10758
|overall_frequency=0.00408998
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_severity=3
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.993
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=6
|webscore=N
|n_web_uneval=10
|variant_evidence=1
|clinical_importance=1
|summary_short=Causes type 2N von Willebrand disease in a recessive manner. This defect in coagulation can manifest as excessive bleeding during surgery.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}