{{Rsnum
|rsid=1800386
|Gene=VWF
|Chromosome=12
|position=6018667
|Orientation=minus
|GMAF=0.001837
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=VWF
}}{{omim
|id=613160
|rsnum=1800386
|variant=0029
}}{{ClinVar
|rsid=1800386
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=6127833
|CHROM=12
|GMAF=0.0018
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050360000000040116110100
|GENEINFO=VWF:7450
|GENE_NAME=VWF
|GENE_ID=7450
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.6127833T>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;S3D;SLO;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9982; 0.001837
|CLNACC=RCV000000338.1; RCV000086795.1
|CLNDBN=von Willebrand disease, type 1, susceptibility to; not provided
|CLNSRC=Academic Unit of Haematology; OMIM Allelic Variant
|CLNSRCID=VWF_4751; 613160.0029
|COMMON=0
|Disease=von Willebrand disease; not provided
}}{{GET Evidence
|gene=VWF
|aa_change=Tyr1584Cys
|aa_change_short=Y1584C
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Likely pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs1800386
|overall_frequency_n=25
|overall_frequency_d=10758
|overall_frequency=0.00232385
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_familial=!
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=1.0
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=6
|autoscore=6
|webscore=N
|n_web_uneval=10
|variant_evidence=1
|clinical_importance=1
|summary_short=This variant is associated with causing Type 1 von Willebrand disease in a dominant fashion. This hereditary defect in coagulation makes individuals more susceptible to bleeding. Not all carriers of the variant have the disease (incomplete penetrance); type O blood may also be a risk factor. A vWF antigen assay can confirm presence of the disease. Individuals are not usually treated with medication, but prophylactic measures are recommended before surgery and behavioral modification to avoid activities with a high risk of trauma (particularly head trauma) is recommended.
}}