VWF Chromosome 12
Von Willebrand factor
Upload your DNA to see your personal genotypes for variants in VWF.
What This Gene Does
This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
Receptor ligands
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000110799
Associated Conditions (38)
VWF-related disorder
von Willebrand disease type 3
von Willebrand disease type 1
Hereditary von Willebrand disease
von Willebrand disorder
Inborn genetic diseases
von Willebrand disease type 2
See cases
Abnormality of coagulation
Nonpapillary renal cell carcinoma
Clear cell carcinoma of kidney
Sarcoma
Uterine corpus endometrial carcinoma
Abnormal bleeding
Thrombocytopenia
Malignant tumor of urinary bladder
Heterotopia
periventricular
X-linked dominant
Colon adenocarcinoma
+18 more conditions
Key Variants
RS112319661
Conflicting classifications of pathogenicity
VWF-related disorder, VWF-related disorder
Health Risk
RS113814258
Conflicting classifications of pathogenicity
von Willebrand disease type 3, von Willebrand disease type 1, Hereditary von Willebrand disease
Health Risk
RS11837584
Conflicting classifications of pathogenicity
von Willebrand disease type 3, von Willebrand disease type 1, von Willebrand disease type 3
Health Risk
RS1223422347
Conflicting classifications of pathogenicity
von Willebrand disease type 3, von Willebrand disorder, von Willebrand disease type 3
Health Risk
RS1229452874
Conflicting classifications of pathogenicity
von Willebrand disorder, VWF-related disorder, von Willebrand disorder
Health Risk
RS1287088175
Conflicting classifications of pathogenicity
Health Risk
RS1312908190
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139196998
Conflicting classifications of pathogenicity
von Willebrand disease type 2, von Willebrand disease type 1, von Willebrand disease type 3
Health Risk
RS139845585
Conflicting classifications of pathogenicity
Hereditary von Willebrand disease, von Willebrand disease type 1, See cases
Health Risk
RS139864572
Conflicting classifications of pathogenicity
Hereditary von Willebrand disease, Hereditary von Willebrand disease
Health Risk
RS140464171
Conflicting classifications of pathogenicity
Hereditary von Willebrand disease, Inborn genetic diseases, Hereditary von Willebrand disease
Health Risk
RS141649383
Conflicting classifications of pathogenicity
von Willebrand disease type 2, von Willebrand disease type 1, von Willebrand disease type 3
Health Risk
All Variants (429)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS55687637 | Health Risk | Conflicting classifications of pathogenicity | Hereditary von Willebrand disease, von Willebrand disease type 1, Hereditary von Willebrand disease |
| RS557379500 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS574811308 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 1, von Willebrand disease type 3, von Willebrand disease type 1 |
| RS61748495 | Health Risk | Conflicting classifications of pathogenicity | Hereditary von Willebrand disease, von Willebrand disease type 1, von Willebrand disease type 2 |
| RS61749368 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 3, von Willebrand disease type 1, Hereditary von Willebrand disease |
| RS61749378 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 2, Von Willebrand disease type 2B, von Willebrand disease type 2 |
| RS61750070 | Health Risk | Conflicting classifications of pathogenicity | Hereditary von Willebrand disease, von Willebrand disease type 2, Hereditary von Willebrand disease |
| RS61750090 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 2, von Willebrand disease type 2 |
| RS61750588 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61750601 | Health Risk | Conflicting classifications of pathogenicity | Hereditary von Willebrand disease, von Willebrand disease type 1, von Willebrand disease type 3 |
| RS61750603 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 2, VWF-related disorder, von Willebrand disease type 1 |
| RS61750604 | Health Risk | Conflicting classifications of pathogenicity | Abnormality of coagulation, VWF-related disorder, Hereditary von Willebrand disease |
| RS61751298 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 1, von Willebrand disease type 3, von Willebrand disease type 1 |
| RS61751302 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 2, von Willebrand disease type 1, von Willebrand disease type 3 |
| RS61753983 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 1, von Willebrand disease type 3, von Willebrand disease type 1 |
| RS61753991 | Health Risk | Conflicting classifications of pathogenicity | VWF-related disorder, VWF-related disorder |
| RS61754019 | Health Risk | Conflicting classifications of pathogenicity | Hereditary von Willebrand disease, von Willebrand disease type 3, von Willebrand disease type 1 |
| RS71581025 | Health Risk | Conflicting classifications of pathogenicity | Hereditary von Willebrand disease, von Willebrand disease type 3, Hereditary von Willebrand disease |
| RS71582882 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755528551 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770714844 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772887330 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779045480 | Health Risk | Conflicting classifications of pathogenicity | Clear cell carcinoma of kidney, Clear cell carcinoma of kidney |
| RS780538558 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 1, von Willebrand disease type 1 |
| RS79275181 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 1, von Willebrand disease type 2, von Willebrand disease type 1 |
| RS990682639 | Health Risk | Conflicting classifications of pathogenicity | von Willebrand disease type 1, von Willebrand disease type 2, von Willebrand disease type 1 |
| RS1800386 | Health Risk | Conflicting classifications of pathogenicity; risk factor | Hereditary von Willebrand disease, Inborn genetic diseases, von Willebrand disease type 2 |
| RS112978778 | Health Risk | Likely pathogenic | — |
| RS1194776238 | Health Risk | Likely pathogenic | von Willebrand disease type 2, von Willebrand disease type 1, von Willebrand disease type 2 |
| RS121964895 | Health Risk | Likely pathogenic | von Willebrand disease type 1, von Willebrand factor Vicenza, Hereditary von Willebrand disease |
| RS1256082707 | Health Risk | Likely pathogenic | von Willebrand disease type 3, von Willebrand disease type 3 |
| RS1268910016 | Health Risk | Likely pathogenic | — |
| RS1397778191 | Health Risk | Likely pathogenic | — |
| RS1438247325 | Health Risk | Likely pathogenic | von Willebrand disease type 1, von Willebrand disease type 1 |
| RS1465018524 | Health Risk | Likely pathogenic | — |
| RS147924974 | Health Risk | Likely pathogenic | Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1565806829 | Health Risk | Likely pathogenic | — |
| RS1565832072 | Health Risk | Likely pathogenic | — |
| RS1565838728 | Health Risk | Likely pathogenic | von Willebrand disease type 2, von Willebrand disease type 2 |
| RS1591834850 | Health Risk | Likely pathogenic | von Willebrand disease type 3, von Willebrand disease type 3 |
| RS1591838792 | Health Risk | Likely pathogenic | von Willebrand disease type 3, von Willebrand disease type 3 |
| RS1591838833 | Health Risk | Likely pathogenic | Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591838900 | Health Risk | Likely pathogenic | — |
| RS1591848387 | Health Risk | Likely pathogenic | Hereditary von Willebrand disease, Hereditary von Willebrand disease |
| RS1591858979 | Health Risk | Likely pathogenic | von Willebrand disease type 1, von Willebrand disease type 1 |
| RS1591862342 | Health Risk | Likely pathogenic | von Willebrand disease type 2, von Willebrand disease type 2 |
| RS1591862366 | Health Risk | Likely pathogenic | von Willebrand disease type 2, von Willebrand disease type 2 |
| RS1591863294 | Health Risk | Likely pathogenic | von Willebrand disease type 2, von Willebrand disease type 2 |
| RS1591865026 | Health Risk | Likely pathogenic | von Willebrand disease type 2, Reduced von Willebrand factor activity, von Willebrand disease type 1 |
| RS1591866220 | Health Risk | Likely pathogenic | Abnormality of coagulation, Abnormality of coagulation |