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VWF Gene

protein-coding   GIFtS: 70
GCID: GC12M006058

Von Willebrand Factor


(Previous symbol: F8VWF)
  See VWF-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Von Willebrand Factor1 2
F8VWF1 2 3
VWD2
Coagulation Factor VIII VWF2
vWF3
F85

External Ids:    HGNC: 127261   Entrez Gene: 74502   Ensembl: ENSG000001107997   OMIM: 6131605   UniProtKB: P042753   

Export aliases for VWF gene to outside databases

Previous GC identifers: GC12M005930 GC12M005928 GC12M005917


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VWF Gene:
The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel
wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or
deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on
chromosome 22. (provided by RefSeq, Jul 2008)

GeneCards Summary for VWF Gene:
VWF (von Willebrand factor) is a protein-coding gene. Diseases associated with VWF include von willebrand's disease, and type 1 von willebrand disease. GO annotations related to this gene include protein homodimerization activity and protein N-terminus binding. An important paralog of this gene is MUC5AC.

UniProtKB/Swiss-Prot: VWF_HUMAN, P04275
Function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular
injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor
complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury,
stabilizing its heterodimeric structure and protecting it from premature clearance from plasma

Gene Wiki entry for VWF (Von Willebrand factor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_009759.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the VWF gene promoter:
         AML1a   Chx10   MyoD   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVWF promoter sequence
   Search Chromatin IP Primers for VWF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VWF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.3   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.3

VWF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VWF gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M006058:  view genomic region     (about GC identifiers)

Start:
6,058,040 bp from pter      End:
6,233,936 bp from pter
Size:
175,897 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VWF_HUMAN, P04275 (See protein sequence)
Recommended Name: von Willebrand factor precursor  
Size: 2813 amino acids; 309265 Da
Subunit: Multimeric. Interacts with F8
Sequence caution: Sequence=AAB59512.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part;
Selected PDB 3D structures from and Proteopedia for VWF (see all 26):
1AO3 (3D)        1ATZ (3D)        1AUQ (3D)        1FE8 (3D)        1FNS (3D)        1IJB (3D)    
Secondary accessions: Q99806

Explore the universe of human proteins at neXtProt for VWF: NX_P04275

Explore proteomics data for VWF at MOPED

Post-translational modifications: 

  • All cysteine residues are involved in intrachain or interchain disulfide bonds1
  • N- and O-glycosylated1
  • Ubiquitination2 at Lys1720
  • Glycosylation2 at Asn99, Asn156, Asn211, Asn666, Asn857, Asn1147, Asn1231, Thr1248, Thr1255, Thr1256,
                                 Ser1263, Thr1468, Thr1477, Ser1486, Thr1487, Asn1515, Asn1574, Thr1679, Asn2223, Asn2290 (see all 26)
  • Modification sites at PhosphoSitePlus

  • See VWF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000543.2  
    ENSEMBL proteins: 
     ENSP00000261405   ENSP00000461331   ENSP00000459134   ENSP00000461318  
    Reactome Protein details: P04275

    VWF Human Recombinant Protein Products:

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    Novus Biologicals VWF Protein
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    Sino Biological Cell Lysate for VWF
    ProSpec Recombinant Protein for VWF
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for VWF 

    VWF Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of VWF
    R&D Systems Antibodies for VWF (vWF-A2)
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    VWF Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for VWF 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    Selected InterPro protein domains (see all 7):
     IPR014853 Unchr_dom_Cys-rich
     IPR006207 Cys_knot_C
     IPR012011 VWF
     IPR002919 TIL_dom
     IPR001007 VWF_C

    Graphical View of Domain Structure for InterPro Entry P04275

    ProtoNet protein and cluster: P04275

    Selected Blocks protein domains (see all 6):
    IPB001007 von Willebrand factor
    IPB001839 Transforming growth factor beta (TGFb)
    IPB001846 Von Willebrand factor
    IPB002035 Von Willebrand factor type A domain signature
    IPB002919 Trypsin inhibitor-like


    UniProtKB/Swiss-Prot: VWF_HUMAN, P04275
    Domain: The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage
    granules
    Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domain
    Similarity: Contains 4 TIL (trypsin inhibitory-like) domains
    Similarity: Contains 3 VWFA domains
    Similarity: Contains 3 VWFC domains
    Similarity: Contains 4 VWFD domains


    Find genes that share domains with VWF           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VWF_HUMAN, P04275
    Function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular
    injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor
    complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury,
    stabilizing its heterodimeric structure and protecting it from premature clearance from plasma

         Genatlas biochemistry entry for VWF:
    coagulation factor VIII (von Willebrand factor),expressed in endothelial megakaryocytes,stored in platelets
    alpha-granules and within the Weibel-Palade bodies of epitheliall cells and released into the plasma forming
    disulfide-linked multimeric structure,assembled from dimers

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IDA16409464
    GO:0002020protease binding IPI12775718
    GO:0005178integrin binding IPI9079671
    GO:0005515protein binding IPI11943773
    GO:0005518collagen binding IDA2056120
         
    Find genes that share ontologies with VWF           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for VWF:
     Cell cycle / mitosis defect  Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         9 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Vwf):
     cardiovascular system  cellular  digestive/alimentary  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with VWF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Vwftm1Wgr for VWF

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VWF
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VWF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VWF
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VWF

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    hsa-miR-4265 hsa-miR-4296
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for VWF
    Predesigned siRNA for gene silencing in human, mouse, rat VWF

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for VWF

    Clone
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    OriGene ORF clones in mouse, rat for VWF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: VWF (NM_000552)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VWF
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat VWF

    Cell Line
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12338) for VWF 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VWF_HUMAN, P04275: Secreted. Secreted, extracellular space, extracellular matrix. Note=Localized to storage
    granules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular5
    cytoskeleton3
    golgi apparatus2
    nucleus2
    plasma membrane2
    lysosome1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005783endoplasmic reticulum IDA6754744
    GO:0009897external side of plasma membrane IEA--
    GO:0031012extracellular matrix IDA6754744

    Find genes that share ontologies with VWF           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for VWF About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Blood Clotting Cascade0.42
    Blood Coagulation Signaling Pathways0.51
    Intrinsic Pathway0.00
    2Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    3Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    4Integrin alphaIIb beta3 signaling
    Integrin alphaIIb beta3 signaling0.73
    GRB2-SOS provides linkage to MAPK signaling for Intergrins0.00
    Platelet Aggregation (Plug Formation)0.73
    p130Cas linkage to MAPK signaling for integrins0.00
    5Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94


    Find genes that share SuperPaths with VWF           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for VWF
        Blood Coagulation Signaling Pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for VWF
        Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway

    3 BioSystems Pathways for VWF
        Focal Adhesion
    Blood Clotting Cascade
    Complement and Coagulation Cascades


    Selected Reactome Pathways for VWF (see all 8)
        Platelet Adhesion to exposed collagen
    Integrin cell surface interactions
    Intrinsic Pathway
    GP1b-IX-V activation signalling
    p130Cas linkage to MAPK signaling for integrins

    1 PharmGKB Pathway for VWF
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    4 Kegg Pathways  (Kegg details for VWF):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Complement and coagulation cascades

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VWF: 
              Cell Surface Markers in human mouse rat
              Endothelial Cell Biology in human mouse rat
              Atherosclerosis in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for VWF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for VWF (P042751, 2, 3 ENSP000002614054) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF512BQ96KM62, 3MINT-60830 I2D: score=2 
    VWFP042751, 2EBI-981819,EBI-981819 MINT-8289100
    GP1BAP073591, 2, 3, ENSP000003293804EBI-981819,EBI-297082 MINT-17868 MINT-24838 I2D: score=3 STRING: ENSP00000329380
    ADAMTS13Q76LX81, 3, ENSP000003609974EBI-981819,EBI-981764 I2D: score=3 STRING: ENSP00000360997
    CALRP277973, ENSP000003208664I2D: score=3 STRING: ENSP00000320866
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0001890placenta development IEA--
    GO:0002576platelet degranulation TAS--
    GO:0007155cell adhesion IDA10764791
    GO:0007596blood coagulation TAS--

    Find genes that share ontologies with VWF           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for VWF

    1 DrugBank Compound for VWF    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Antihemophilic FactorAHF (see all 3)--targetbinder2942172 2128855 14750934 11858481 10938981

    Selected Novoseek inferred chemical compound relationships for VWF gene (see all 135)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ristocetin 97.1 956 7887899 (6), 19694940 (5), 17977030 (5), 14757772 (4) (see all 99)
    desmopressin 91.1 630 11992235 (10), 7690994 (6), 17164493 (6), 2108732 (6) (see all 99)
    fibrinogen 87.2 964 17650077 (9), 17622488 (7), 15745313 (7), 9416937 (6) (see all 99)
    crotalin 72.1 3 9473223 (2)
    calin 66 5 9490916 (1), 9164855 (1), 7833474 (1), 10494781 (1)
    aurintricarboxylic acid 65.6 39 1287886 (4), 18957047 (2), 7749846 (1), 9459348 (1) (see all 16)
    adp 64.9 103 2154674 (3), 2401846 (3), 8051492 (3), 2346725 (2) (see all 56)
    kogenate 63.9 9 7639276 (2), 18078401 (2), 7483501 (1), 11122270 (1) (see all 6)
    koate-hp 63.7 2 11563592 (1), 8191394 (1)
    rfviii 61.2 15 10456452 (2), 8199023 (1), 8652394 (1), 18983499 (1) (see all 7)



    Find genes that share compounds with VWF           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VWF gene: 
    NM_000552.3  

    Unigene Cluster for VWF:

    Von Willebrand factor
    Hs.440848  [show with all ESTs]
    Unigene Representative Sequence: NM_000552
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261405(uc001qnn.1 uc010set.1) ENST00000538635 ENST00000539641
    ENST00000321023 ENST00000538563 ENST00000545906 ENST00000540192 ENST00000572068(uc001qno.1)

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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: VWF (NM_000552)
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    Primer
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    Flow Cytometry
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    Additional mRNA sequence: 

    AF086470.1 AK128487.1 AK292122.1 AK297600.1 BC022258.1 BC069030.1 K03028.1 M10321.1 
    M17588.1 U81237.1 X02672.1 X04146.1 X04385.1 

    21 DOTS entries:

    DT.91762387  DT.95170468  DT.121129090  DT.121129141  DT.100788530  DT.121129143  DT.100788527  DT.121129166 
    DT.97790477  DT.97846422  DT.121129157  DT.40121611  DT.95170466  DT.99966582  DT.429976  DT.91762385 
    DT.95292632  DT.75146000  DT.91762382  DT.95170467  DT.121129186 

    Selected AceView cDNA sequences (see all 349):

    CA426966 BM978014 AL549326 AW088268 BM931624 CB266691 BC069030 AA683280 
    CB266865 BM992949 BQ882131 BQ722193 M17588 BQ004477 X04385 BU732004 
    AU140314 AA457534 AA323834 BQ029045 BM699079 AU158381 CB267322 BX457215 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for VWF (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                    -     -                             -                                                                                                   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47a ·
    SP1:                                                                                                        -                                               -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 47b ^ 48 ^ 49a · 49b ^ 50a · 50b ^ 51 ^ 52 ^ 53
    SP1:              -                 -                     
    SP2:                                                      
    SP3:              -                                       
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for VWF

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    VWF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGCTCTT
    VWF Expression
    About this image


    VWF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 24) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 39 entries
             Pericytes Microvessels
             Human umbilical vein endothelial cells (HUVEC)
             UEA-1 isolated cells
             Human Aortic Endothelial Cells (HAEC)   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 6 entries
             Umbilical cord blood-derived endothelial progenitor cells
             Human Umbilical Artery Endothelial Cells (HUAEC)   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Angiogenic cell precursor
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             Brain microvascular endothelial cells
             Human Brain Microvascular Endothelial Cells (HBMEC)   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Endocardial Tube Cells Endocardium
             Heart Tube
             Cardiac progenitor cells
             Human Pulmonary Artery Endothelial Cells (HPAEC)   
    VWF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VWF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.440848

    UniProtKB/Swiss-Prot: VWF_HUMAN, P04275
    Tissue specificity: Plasma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VWF: 
              Cell Surface Markers in human mouse rat
              Endothelial Cell Biology in human mouse rat
              Atherosclerosis in human mouse rat
              Mesenchymal Stem Cell in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for VWF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VWF
    QuantiTect SYBR Green Assays in human, mouse, rat VWF
    QuantiFast Probe-based Assays in human, mouse, rat VWF
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VWF

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for VWF gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vwf1 , 5 Von Willebrand factor homolog1, 5 83.68(n)1
    83.4(a)1
      6 (59.32 cM)5
    223711  NM_011708.41  NP_035838.31 
     1255467745 
    chicken
    (Gallus gallus)
    Aves VWF1 von Willebrand factor 61.71(n)
    56.63(a)
      419031  XM_417223.4  XP_417223.3 
    lizard
    (Anolis carolinensis)
    Reptilia VWF6
    Uncharacterized protein
    55(a)
    1 ↔ 1
    5(81821509-82024856)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia vwf1 von Willebrand factor 60.41(n)
    55.42(a)
      100492314  NM_001256288.1  NP_001243217.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vwf1 von Willebrand factor 56.17(n)
    47.62(a)
      570643  XM_002665310.3  XP_002665356.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hml3 defense response sugar binding 30(a)   70C4   --


    ENSEMBL Gene Tree for VWF (if available)
    TreeFam Gene Tree for VWF (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for VWF gene
    MUC5AC2  ZAN2  TECTA2  MUC22  OTOG2  OTOGL2  MUC62  MUC192  
    FCGBP2  BMPER2  
    3 SIMAP similar genes for VWF using alignment to 5 protein entries:     VWF_HUMAN (see all proteins):
    COL21A1    FCGBP    MG1

    Find genes that share paralogs with VWF           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for VWF
    PGOHUM00000246202


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for VWF (see all 5204)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617506151,2,,4
    C,FVon Willebrand disease 3 (VWD3)4 untested16035142(-) TCACTC/TCACAA 2 P S mis12Minor allele frequency- T:0.01NA EU 5875
    rs412767381,2,,4
    C,FVon Willebrand disease 2 (VWD2)4 pathogenic16075456(+) ACTTCC/TGGTCC 2 Q R mis14Minor allele frequency- T:0.00NA EU 5871
    rs617539971,2,,4
    CVon Willebrand disease 3 (VWD3)4 untested16116089(-) ACGCCC/TGGACC 2 R W mis11Minor allele frequency- T:0.00NA 4548
    VAR_0058084
    Von Willebrand disease 2 (VWD2)4--see VAR_0058082 F C mis40--------
    VAR_0057924
    Von Willebrand disease 2 (VWD2)4--see VAR_0057922 H D mis40--------
    VAR_0058114
    Von Willebrand disease 2 (VWD2)4--see VAR_0058112 R G mis40--------
    VAR_0058144
    Von Willebrand disease 2 (VWD2)4--see VAR_0058142 V D mis40--------
    VAR_0057834
    Von Willebrand disease 2 (VWD2)4--see VAR_0057832 N S mis40--------
    VAR_0057944
    Von Willebrand disease 2 (VWD2)4--see VAR_0057942 R W mis40--------
    VAR_0058154
    Von Willebrand disease 2 (VWD2)4--see VAR_0058152 G R mis40--------
    VAR_0058094
    Von Willebrand disease 2 (VWD2)4--see VAR_0058092 L P mis40--------
    VAR_0091414
    Von Willebrand disease 2 (VWD2)4--see VAR_0091412 C Y mis40--------
    VAR_0057994
    Von Willebrand disease 2 (VWD2)4--see VAR_0057992 V L mis40--------
    VAR_0058194
    Von Willebrand disease 2 (VWD2)4--see VAR_0058192 P S mis40--------
    VAR_0058184
    Von Willebrand disease 2 (VWD2)4--see VAR_0058182 E K mis40--------
    VAR_0058174
    Von Willebrand disease 2 (VWD2)4--see VAR_0058172 I T mis40--------
    VAR_0284464
    Von Willebrand disease 2 (VWD2)4--see VAR_0284462 C R mis40--------
    VAR_0058014
    Von Willebrand disease 2 (VWD2)4--see VAR_0058012 R Q mis40--------
    VAR_0058164
    Von Willebrand disease 2 (VWD2)4--see VAR_0058162 S P mis40--------
    VAR_0057984
    Von Willebrand disease 2 (VWD2)4--see VAR_0057982 V M mis40--------
    VAR_0091444
    Von Willebrand disease 3 (VWD3)4--see VAR_0091442 N Y mis40--------
    VAR_0058134
    Von Willebrand disease 2 (VWD2)4--see VAR_0058132 R W mis40--------
    VAR_0673404
    Von Willebrand disease 2 (VWD2)4--see VAR_0673402 C F mis40--------
    VAR_0649254
    Von Willebrand disease 1 (VWD1)4--see VAR_0649252 C R mis40--------
    VAR_0058224
    Von Willebrand disease 2 (VWD2)4--see VAR_0058222 C R mis40--------
    VAR_0058064
    Von Willebrand disease 2 (VWD2)4--see VAR_0058062 L V mis40--------
    VAR_0057874
    Von Willebrand disease 2 (VWD2)4--see VAR_0057872 R W mis40--------
    VAR_0057864
    Von Willebrand disease 2 (VWD2)4--see VAR_0057862 T M mis40--------
    VAR_0057954
    Von Willebrand disease 2 (VWD2)4--see VAR_0057952 R C mis40--------
    VAR_0057964
    Von Willebrand disease 2 (VWD2)4--see VAR_0057962 W C mis40--------
    VAR_0058004
    Von Willebrand disease 2 (VWD2)4--see VAR_0058002 G S mis40--------
    VAR_0058074
    Von Willebrand disease 2 (VWD2)4--see VAR_0058072 A V mis40--------
    VAR_0057844
    Von Willebrand disease 2 (VWD2)4--see VAR_0057842 G R mis40--------
    VAR_0057934
    Von Willebrand disease 2 (VWD2)4--see VAR_0057932 C R mis40--------
    VAR_0362764
    A breast cancer sample4--see VAR_0362762 Y C mis40--------
    VAR_0057974
    Von Willebrand disease 2 (VWD2)4--see VAR_0057972 V L mis40--------
    VAR_0057914
    Von Willebrand disease 2 (VWD2)4--see VAR_0057912 P L mis40--------
    VAR_0058024
    Von Willebrand disease 2 (VWD2)4--see VAR_0058022 R C mis40--------
    VAR_0058214
    Von Willebrand disease 3 (VWD3)4--see VAR_0058212 C Y mis40--------
    VAR_0058034
    Von Willebrand disease 2 (VWD2)4--see VAR_0058032 R H mis40--------
    VAR_0057824
    Von Willebrand disease 3 (VWD3)4--see VAR_0057822 W C mis40--------
    VAR_0058124
    Von Willebrand disease 2 (VWD2)4--see VAR_0058122 R Q mis40--------
    VAR_0091434
    Von Willebrand disease 3 (VWD3)4--see VAR_0091432 C F mis40--------
    VAR_0058204
    Von Willebrand disease 2 (VWD2)4--see VAR_0058202 V E mis40--------
    rs18003821,2
    C,Fnon-pathogenic16059861(-) TGTCCG/ACTACG 2 /H /R mis12Minor allele frequency- A:0.01NA EU 5867
    rs617513101,2
    Cpathogenic15989758(-) GCTCCC/TGCTGC 2 R C mis10--------
    rs617512961,2
    Cpathogenic16009955(-) GTGTCC/TGAGTG 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs617506301,2
    Cpathogenic16022644(-) AGCCTG/TCAGGA 2 C F mis10--------
    rs617506121,2
    Cpathogenic16054183(-) TCCAGC/TGAATC 2 R * stg10--------
    rs617505951,2
    Cpathogenic16059082(-) TCCCCC/TGAGAG 2 R * stg10--------
    rs617505841,2
    Cpathogenic16059174(-) GCCCAC/TTGGAG 2 T I mis10--------
    rs617505811,2
    Cpathogenic16059220(-) CTGCCC/TCTGAT 2 P S mis10--------
    rs617505791,2
    Cpathogenic16059237(-) CATGGA/TCACCG 2 D V mis10--------
    rs617501171,2
    Cpathogenic16059268(-) GTGACC/G/TGGGAG 3 R G W mis10--------
    rs617501011,2
    Cpathogenic16059516(-) CGACTG/TCAACA 2 C F mis10--------
    rs617494031,2
    Cpathogenic16060035(-) GCTGCA/C/G/
            
    GCGCA
    4 Q P R L mis10--------
    rs617493981,2
    Cpathogenic16060087(-) ACGACA/GGCTCC 2 S G mis10--------
    rs617493971,2
    Cpathogenic16060111(-) TCCGCA/GTGGCC 2 M V mis10--------
    rs617493931,2
    Cpathogenic16060117(-) AGTGGC/G/TTCCGC 3 L V F mis10--------
    rs617493921,2
    Cpathogenic16060118(-) AAGTGC/GGTCCG 2 C W mis10--------
    rs617493871,2
    Cpathogenic16060135(-) GGCTGC/TGCATC 2 R C mis10--------
    rs617493841,2
    Cpathogenic16060141(-) TGGAGC/TGGCTG 2 R W mis10--------
    rs617493801,2
    Cpathogenic16060203(-) TGGCTC/TCTCCA 2 S F mis10--------
    rs617493721,2
    Cpathogenic16060243(-) TCTACC/G/TGCAGC 3 R G C mis10--------
    rs617493701,2
    Cpathogenic16060260(-) ACCGCA/C/TGTTGC 3 Q P L mis10--------
    rs1219648951,2
    Cpathogenic16062599(-) CCGGCA/G/TTTTTG 3 H R L mis10--------
    rs617485111,2
    Cpathogenic16063472(-) ACAGCC/TGTGCA 2 R C mis10--------
    rs617484971,2
    Cpathogenic16066262(-) CCTCCC/TGTAGA 2 R C mis10--------
    rs1219648941,2
    Cpathogenic16077132(-) AGGTCC/TGGCAT 2 R W mis10--------
    rs626436301,2
    Cpathogenic16084986(-) GGGCTG/TTGTCT 2 C F mis10--------
    rs617484781,2
    Cpathogenic16085013(-) GAACTA/GTGACC 2 Y C mis10--------
    rs617484771,2
    Cpathogenic16085025(-) CAAAAC/TGTGCC 2 T M mis10--------
    rs617540111,2
    Cpathogenic16098630(-) ACTTCA/GGGAAC 2 R G mis10--------
    rs617540101,2
    Cpathogenic16098695(-) TTACAA/GTGGCA 2 N S mis10--------
    rs617540021,2
    Cpathogenic16113065(-) CGCTAA/CCCTCC 2 * Y stg10--------
    rs617513041,2
    Cuntested15992459(-) CATGTC/G/TAGTGC 1 -- int10--------
    rs617513021,2
    C,Funtested15994160(-) GCCTAC/TGGCTT 2 T M mis12Minor allele frequency- T:0.00NA EU 5873
    rs617512901,2
    Cuntested16016728(-) GGTCGA/G/TTGAGT 1 -- spd10--------
    rs617512891,2
    Cuntested16016736(-) CAGCTA/C/GTCGGT 3 Y S C mis10--------
    rs617512861,2
    Cuntested16016776(-) GCCTCC/TGCGTG 2 R C mis10--------
    rs626436401,2
    Cuntested16016866(-) TCCACC/G/TGAAGC 3 R G * mis1 stg10--------
    rs626412421,2
    C,Funtested16025741(-) CCTCCG/ACCAGA 2 /H /R mis12Minor allele frequency- A:0.00NA EU 5865
    rs617506251,2
    C,Funtested16026263(-) GCGGGC/TGGAAG 2 R W mis12Minor allele frequency- T:0.00WA NA 4544
    rs617506211,2
    Cuntested16032696(-) AAGTGA/TCCTCC 1 -- int10--------
    rs22294461,2,,4
    C,F,Huntested16034564(-) CTGTCG/AGACCA 2 /Q /R mis113Minor allele frequency- A:0.07NS EA NA CSA WA EU 6557
    rs617506181,2
    Cuntested16034685(-) TCTTAC/TCACTG 2 P S mis10--------
    rs617506081,2
    Cuntested16056730(-) GTCCAA/GCAGTA 2 N S mis11Minor allele frequency- G:0.00EU 1323
    rs617506041,2
    C,Funtested16057188(-) TGGACG/ATCATG 2 /I /V mis12Minor allele frequency- A:0.00NA EU 5873
    rs617506031,2
    C,Funtested16057275(-) AGGTGT/ACAGTG 2 /T /S mis12Minor allele frequency- A:0.00NA EU 5875
    rs617506011,2
    C,Funtested16057383(-) GTGAGC/TGAGGC 1 -- int11Minor allele frequency- T:0.01EU 1259
    rs617506001,2
    Cuntested16059003(-) ACCTGA/G/TTATGC 2 -- spd10--------
    rs617505981,2
    Cuntested16059043(-) GCTCCG/AGAGAG 2 /R /G mis11Minor allele frequency- A:0.00NA 4166
    rs617505911,2
    untested16059113(-) GCCCC-/TATCCT 2 S I fra10--------
    rs617505801,2
    untested16059232(-) TCACCA/GGAAAT 2 R G mis10--------
    rs617505771,2
    Cuntested16059267(-) TGACCA/G/TGGAGC 3 Q R L mis10--------
    rs617501161,2
    C,Funtested16059310(-) CCCTGC/TGGTAC 2 R W mis10--------
    rs617501141,2
    untested16059319(-) CTGGGC/GTGGCC 2 L V mis10--------
    rs617501001,2
    C,Funtested16059540(-) AGGATC/TGGACA 2 S L mis11Minor allele frequency- T:0.01EU 657
    rs617500971,2
    Cuntested16059549(-) CGTCCA/C/G/
            
    GGAAG
    4 Q P R L mis10--------
    rs617500891,2
    Cuntested16059675(-) CCTTGA/C/TCCCTG 3 D A V mis10--------
    rs617500861,2
    Cuntested16059689(-) AGCTAA/C/GCTCTG 3 * Y stg10--------
    rs617500771,2
    Cuntested16059862(-) TTGTCC/TGCTAC 2 R C mis10--------
    rs617500751,2
    Cuntested16059909(-) CCTGCC/G/TCCTGA 3 P R L mis10--------
    rs617500721,2
    Cuntested16059936(-) CGACCA/G/TCCCTG 3 H R L mis10--------
    rs617500711,2
    Cuntested16059937(-) TCGACA/C/TGCCCT 3 S R C mis10--------
    rs617500691,2
    untested16059952(-) AAATCA/TTCAGC 2 I F mis10--------
    rs1509234811,2
    Cuntested16060030(+) GGCAAT/CGCGCC 2 /I /V mis11Minor allele frequency- C:0.00NA 4316
    rs617494041,2
    C,Funtested16060033(-) TGCGGC/TGCATT 2 R C mis11Minor allele frequency- T:0.00NA 4290
    rs617493961,2
    Cuntested16060113(-) GGTCCA/G/TCGTGG 3 H R L mis11NA 4522
    rs617493881,2
    Cuntested16060134(-) GCTGCA/C/GCATCT 3 H P R mis10--------
    rs617493851,2
    Cuntested16060140(-) GGAGCA/G/TGCTGC 3 Q R L mis10--------
    rs617493761,2
    Cuntested16060222(-) ACCTGA/G/TTCTTC 3 I V F mis11EU 1317
    rs635241611,2
    Cuntested16060242(-) CTACTC/G/TCAGCA 3 S C F mis10--------
    rs617493711,2
    Cuntested16060255(-) CGTTGA/C/GACGAT 3 N H D mis10--------
    rs617493681,2
    Cuntested16060365(-) TGTCAA/C/GCCTCA 2 N T mis10--------
    rs617493671,2
    Cuntested16060371(-) TGATGG/TTGTCA 2 G V mis10--------
    rs2676073231,2
    Cuntested16063529(-) AGAGCC/G/TGCGAG 3 R G C mis10--------
    rs23633371,2
    Cuntested16064269(+) ACTCAC/TGGCAC 1 -- spd1 spl30--------
    rs2676073181,2
    Cuntested16064346(-) TTCTGC/G/TGACAC 2 C W mis10--------
    rs2020344141,2
    Cuntested16064348(+) GTCGCA/C/GGAAGC 2 R C mis11EU 1309
    rs2676073171,2
    Cuntested16064368(-) GTCCAC/TTGGGG 2 T I mis10--------
    rs2676073161,2
    Cuntested16064417(-) ACCCCA/GAGCCA 2 K E mis10--------
    rs617484951,2
    Cuntested16066539(-) AGTACA/GTCTGG 1 -- int10--------
    rs617484921,2
    Cuntested16072085(-) GGGAGA/C/GTAAGT 2 -- spd10--------
    rs339789011,2
    C,Funtested16072135(+) TGACCC/TGTTTC 2 Q R mis14Minor allele frequency- T:0.01NA EU 6043
    rs617484891,2
    Cuntested16072222(-) TCCCCA/C/GGGATT 1 -- spa10--------
    rs579507341,2
    C,Funtested16077127(+) TTCTCA/TTGCCG 2 Q H mis14Minor allele frequency- T:0.04CSA WA NA EU 5992
    rs626436311,2
    Cuntested16084962(-) CCCCCC/TGGGCA 2 P L mis10--------
    rs10638561,2,,4
    C,F,O,A,Huntested16085032(-) AGTGTA/C/GCCAAA 2 T P mis137MN EA NA NS WA CSA EU 8962
    rs617484721,2
    Cuntested16085052(-) CCTGCA/C/GGGCTG 2 Q R mis10--------
    rs617484711,2
    Cuntested16085053(-) ACCTGC/TGGGCT 2 R W mis11Minor allele frequency- T:0.00NA 4550
    rs22283171,2
    C,F,Huntested16087448(-) ACCATG/AAGTGG 2 /I /M mis123Minor allele frequency- A:0.07NA NS EA CSA WA EU 7807
    rs617540191,2
    Cuntested16097579(-) CGTCGC/TGTGGC 2 A V mis10--------
    rs617540161,2
    Cuntested16097643(-) GCCGCC/G/TAGTGC 2 E * stg10--------
    rs1501467441,2
    C,Funtested16098550(+) ATACTC/AATGCG 2 /M /I mis12Minor allele frequency- A:0.00NA EU 5855
    rs617540091,2
    Cuntested16098747(-) TCCTGA/CAGCTG 1 -- int10--------
    rs1842175641,2
    Cuntested16103639(+) TACCCC/TGTGAG 1 -- int10--------
    rs617539981,2
    Cuntested16116083(-) GGACCA/C/TGTGCC 3 S R C mis10--------
    rs617539941,2
    Cuntested16151155(-) CCTGCA/C/TGTCAG 3 Q P L mis10--------
    rs617539921,2
    Cuntested16151183(-) GGATCA/G/TATGGC 3 N D Y mis10--------
    rs617539911,2
    C,Funtested16151219(-) ACAAGC/ATGTCC 2 /M /L mis12Minor allele frequency- A:0.00WA NA 4670
    rs617539841,2
    Cuntested16161992(-) CGGCCC/G/TGATGC 3 R G * mis1 stg10--------
    rs18003861,2,,4
    C,Fother16059306(-) GCGGTA/GCCTCT 2 Y C mis14Minor allele frequency- G:0.00NA EU 5659
    rs1443318151,2
    C--5946055(+) TGAGA-/ACAGAGA 1 -- int10--------
    rs2014891861,2
    C--5960675(-) TAGTGG/TTNNNN 1 -- int10--------
    rs108493581,2
    C,F,A,H--5989044(+) CAGTCG/ATCAGC 1 -- ds500110Minor allele frequency- A:0.12NS EA WA NA CSA 546
    rs19903261,2
    C,F,A,H--5989363(+) CCAGAA/GGTTGG 1 -- ds500133Minor allele frequency- N:0.00NA EA NS WA CSA 2030
    rs1927726391,2
    --5989428(+) AGAACC/TGGTCT 1 -- ds50010--------
    rs79769551,2
    C,F,A,H--5989429(+) GAACCG/AGTCTC 1 -- ds500126Minor allele frequency- A:0.16NS EA NA CSA WA 2659
    rs1459468371,2
    --5989474(+) CCCTAC/TGACAC 1 -- ds50010--------
    rs30875171,2
    H--5989693(-) GTTGTG/TTACCA 2 V syn1 ese35Minor allele frequency- T:0.05MN NS EA 602
    rs1437437091,2
    C,F--5989697(+) ACACAA/GCAGAG 2 A V mis11Minor allele frequency- G:0.00NA 4548
    rs2017412251,2
    C--5989738(+) GGCTCC/TGTCCG 2 T syn10--------
    rs1493096741,2
    F--5989786(+) TTGATG/ATCAAT 2 /D syn11Minor allele frequency- A:0.00NA 4550
    rs2002748271,2
    --5989844(+) AAGATA/GGGAGC 1 -- int10--------
    rs792320841,2
    C,F--5989855(+) TTCACA/GATGGT 1 -- int11Minor allele frequency- G:0.04WA 118
    rs1385109171,2
    --5989943(+) TCACCC/TAGAAG 1 -- int10--------
    rs715810331,2
    C,F--5990120(+) ATATAT/CGTTTG 1 -- int12Minor allele frequency- C:0.31CSA WA 120
    rs9334081,2
    C,F,A,H--5990188(+) AAGGAT/GTTGCT 1 -- int127Minor allele frequency- G:0.14NA EA MN NS CSA WA 2552
    rs1844466741,2
    --5990198(+) TGAGTC/TTTTCC 1 -- int10--------
    rs2005138751,2
    --5990264(+) TGCTT-/AAAAAA 1 -- int10--------
    rs1893267261,2
    C--5990356(+) AACACA/GGAGGC 1 -- int10--------
    rs23624821,2
    C,F,A--5990365(+) GCTCAG/ACCCTC 1 -- int13Minor allele frequency- A:0.14CSA WA NA 242
    rs23624831,2
    C,F,A--5990372(+) CCTCCA/GCACCC 1 -- int12Minor allele frequency- G:0.21CSA WA 122
    rs1164252741,2
    C--5990373(+) CTCCAC/TACCCA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1998717491,2
    --5990475(+) GGCAGA/TGATGT 2 T S mis10--------
    rs2017477901,2
    C--5990543(+) CTGGGA/GTTCTA 1 -- int10--------
    rs1813190361,2
    --5990814(+) TAAAAA/GCCACA 1 -- int10--------
    rs128112291,2
    H--5990940(+) GAAGTC/AATGGT 1 -- int16Minor allele frequency- A:0.00NS EA NA 416
    rs3706791501,2
    C--5990958(+) GGGCAC/TCCCTG 1 -- int10--------
    rs79533731,2
    C,F,H--5991017(+) TCTTCG/AGGTAC 1 -- int15Minor allele frequency- A:0.02NS EA NA 528
    rs79688881,2
    C,F,H--5991171(+) TCCTTA/GGATGG 1 -- int110Minor allele frequency- G:0.14NS EA NA WA 782
    rs113909771,2
    C--5991280(+) AAAAA-/A/AA  
            
    CATTT
    1 -- int1 trp30--------
    rs1865183581,2
    --5991324(+) TTGCTA/GTGGAT 1 -- int10--------
    rs1890894321,2
    --5991456(+) TGCAGC/TGTGCC 1 -- int10--------
    rs781587841,2
    C,F--5991484(+) CTCTGA/GTGGTT 1 -- int12Minor allele frequency- G:0.04NA 122
    rs576617041,2
    C,F--5991514(+) AACCAT/CTCAAA 1 -- int15Minor allele frequency- C:0.12NA WA EA 362
    rs1416750921,2
    --5991558(+) TTCCTC/TGATCT 1 -- int10--------
    rs573784341,2
    C,F--5991620(+) CTGAAA/GGTATT 1 -- int15Minor allele frequency- G:0.12NA WA EA 362
    rs1814759531,2
    --5991654(+) TATCTA/GTAAAC 1 -- int10--------
    rs567694531,2
    C,F--5991683(+) CCAGGG/ACAGAA 1 -- int12Minor allele frequency- A:0.50NA WA 4
    rs570486231,2
    C--5991687(+) GGCAG-/AAAAGA 1 -- int10--------
    rs589350061,2
    C--5991794(+) CTCACA/GAACAC 1 -- int15Minor allele frequency- G:0.13NA WA EA 362
    rs1909732911,2
    --5991809(+) ATGTAC/TGGGAA 1 -- int10--------
    rs1462067351,2
    --5991815(+) GGGAAG/TAACAC 1 -- int10--------
    rs1391721771,2
    --5991820(+) GAACAA/CTGTCT 1 -- int10--------
    rs1499332581,2
    --5991883(+) CCAATC/TAGTAG 1 -- int10--------
    rs1181586491,2
    C,F--5991900(+) ACTACG/AAGGTA 1 -- int11Minor allele frequency- A:0.01NA 120
    rs787533541,2
    F--5991918(+) GCTCAG/TAGTGA 1 -- int11Minor allele frequency- T:0.33NA 6
    rs1439863631,2
    --5991931(+) AAGAGG/TGGGTG 1 -- int10--------
    rs1839132231,2
    --5991958(+) CCCCAA/CAGCAC 1 -- int10--------
    rs1859873331,2
    --5992038(+) AGATAG/TGTGTT 1 -- int10--------
    rs1908447041,2
    --5992291(+) CCCTGC/GAAGAC 1 -- int10--------
    rs1832178191,2
    --5992324(+) GTCACA/GAAATA 1 -- int10--------
    rs22701511,2
    C,F,A,H--5992412(+) CCCCTA/GGACTT 1 -- int129Minor allele frequency- N:0.00EA NA NS WA CSA 4456
    rs22701521,2
    C,F,A,H--5992521(+) AAATTT/GCAGGT 1 -- int128Minor allele frequency- G:0.17NS EA NA WA CSA EU 4382
    rs1486963091,2
    C--5992568(+) CACTCC/TGGGCC 1 -- int10--------
    rs1444797901,2
    --5992671(+) CCTGAC/TCAGGC 1 -- int10--------
    rs79619981,2
    C,F,H--5992793(+) TCAGCC/TTCCCT 1 -- int16Minor allele frequency- T:0.03NS EA CSA NA 540
    rs762364221,2
    F--5992802(+) CTTAAG/CGAAAA 1 -- int11Minor allele frequency- C:0.03WA 118
    rs22866461,2
    C,F,A,H--5992943(+) TGCACA/GCTATT 1 -- int123Minor allele frequency- G:0.15EA NA NS WA CSA 3985
    rs2006297901,2
    C--5992961(+) ATCTTG/TTTCTT 1 -- int10--------
    rs2000078891,2
    --5992968(+) TCTTAA/GAGATT 1 -- int10--------
    rs1478852531,2
    C--5992977(+) TTGAGA/TCAGTA 1 -- int10--------
    rs1997834231,2
    C--5992979(+) GAGACA/CGTAAA 1 -- int11Minor allele frequency- C:0.00EU 1323
    rs3777455271,2
    C--5992983(+) CAGTAA/GAGAGG 1 -- int10--------
    rs1137318811,2
    C--5993007(+) TACTCA/C/TCTCCC 1 -- spd11CSA 1
    rs79622171,2,,4
    C,F,H--5993011(+) CACTCC/TCTCAG 2 R G mis1 ese316Minor allele frequency- T:0.04NA NS EA EU 7731
    rs1440305441,2
    C,F--5993030(+) TTGTGT/CTCATC 2 /E syn11Minor allele frequency- C:0.00NA 4552
    rs764591361,2
    C,F--5993040(+) CAAAGG/CGTGGG 2 /P /R mis12Minor allele frequency- C:0.00NA EU 5875
    rs412767321,2
    C,F--5993045(+) GGTGGG/ACAGCC 2 /C syn13Minor allele frequency- A:0.00NA EU 5877
    rs2003895671,2
    --5993056(+) TGTGAA/CCCTCT 2 V F mis10--------
    rs1511294351,2
    C,F--5993088(+) TCTCAT/CTGACC 2 /N /S mis11Minor allele frequency- C:0.00NA 4548
    rs2018904521,2
    --5993126(+) TGGAGC/TGTCTC 2 T syn10--------
    rs783530281,2
    C,F--5993127(+) GGAGCG/ATCTCA 2 /T /M mis13Minor allele frequency- A:0.02WA NA EU 5991
    rs1498348741,2
    C,F--5993136(+) CATCAC/GGCTGG 2 P R mis12Minor allele frequency- G:0.00NA EU 5873
    rs1415186891,2
    --5993246(+) AACCAC/TGAAAC 1 -- int10--------
    rs1871279541,2
    --5993381(+) GAAGGA/TTTGAG 1 -- int10--------
    rs1162595421,2
    C--5993386(+) ATTGAA/GATATA 1 -- int10--------
    rs71337771,2
    C,F,A--5993399(+) AACAGC/TAAACT 1 -- int117Minor allele frequency- T:0.44NA WA CSA EA 524
    rs1510600731,2
    --5993434(+) ATGAAC/TGAAGG 1 -- int10--------
    rs1409694241,2
    --5993435(+) TGAACA/GAAGGG 1 -- int10--------
    rs1179377281,2
    C,F--5993454(+) CCCAGC/TCCCAC 1 -- int11Minor allele frequency- T:0.07NA 120
    rs110639521,2
    C,F--5993612(+) gaggcC/Tgaggt 1 -- int12Minor allele frequency- T:0.50WA CSA 4
    rs1388784111,2
    --5993667(+) TGATGA/TAATCC 1 -- int10--------
    rs758069561,2
    C--5993732(+) CCCAGC/TTACTC 1 -- int10--------
    rs619084571,2
    C--5993799(+) GAGATC/TGTGAC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs128318641,2
    C,F,A--5993831(+) AGAGCG/AAGACT 1 -- int19Minor allele frequency- A:0.12NA WA CSA 16
    rs1415278901,2
    --5993845(+) TCTCAA/CGAAAG 1 -- int10--------
    rs1154038991,2
    C,F--5993864(+) AAGATC/AAATCA 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1444202321,2
    --5993902(+) GTACAC/TTCTTG 1 -- int10--------
    rs1113811501,2
    C--5994214(+) AACCCA/TGCATC 1 -- spa10--------
    rs122973701,2
    C,F,H--5994229(+) GGGGGA/GAAAAG 1 -- int1 trp37Minor allele frequency- G:0.03NS EA NA CSA WA 540
    rs1829593981,2
    --5994277(+) AGTAGG/TCTGAT 1 -- int10--------
    rs37593201,2
    C,F,A,H--5994305(+) TCTCTC/TATCCA 1 -- int135Minor allele frequency- T:0.49EA NS NA WA CSA 3829
    rs37593211,2
    C,F,A,H--5994330(+) AATTCG/AGAAAG 1 -- int127Minor allele frequency- A:0.41NS EA NA WA CSA 2767
    rs122974421,2
    C,F,H--5994341(+) TCAACA/GTCCAA 1 -- int112Minor allele frequency- G:0.12EA NS NA WA CSA 552
    rs570403041,2
    C,F--5994346(+) ATCCAA/GCTCCA 1 -- int13Minor allele frequency- G:0.17CSA WA NA 240
    rs1158047231,2
    F--5994396(+) CTTCAC/GTCTGC 1 -- int11Minor allele frequency- G:0.06WA 118
    rs79588831,2
    C,F,A,H--5994435(+) GCCAGA/TCCTAT 1 -- int129Minor allele frequency- T:0.36NS EA NA WA CSA 2495
    rs123175231,2
    C,F,A,H--5994594(+) agtggC/Tgttaa 1 -- int122Minor allele frequency- T:0.25NS EA NA WA CSA 2349
    rs79696721,2
    C,F,A,H--5994617(+) TCAAAA/CAAGAA 1 -- int125Minor allele frequency- N:0.00NS EA NA WA CSA 2124
    rs1480081191,2
    --5994759(+) ACCATC/TATCTA 1 -- int10--------
    rs107743871,2
    C,F,A,H--5994881(+) TTGTGA/CCTCCT 1 -- int116Minor allele frequency- C:0.32NS EA NA WA CSA 674
    rs798985561,2
    C,F--5994971(+) TGATTA/GTAAAC 1 -- int11Minor allele frequency- G:0.02NA 120
    rs1505664461,2
    --5994984(+) TTAACA/GAAATA 1 -- int10--------
    rs1395598891,2
    --5995120(+) GGGCCA/GTCTGT 1 -- int10--------
    rs1874289661,2
    --5995131(+) ATGGCA/CCTGGA 1 -- int10--------
    rs1432462501,2
    C--5995227(+) AAGGG-/AAAAAT 1 -- int10--------
    rs1163855631,2
    C--5995231(+) GGAAAA/GTGTCA 1 -- int10--------
    rs1165155791,2
    C,F--5995287(+) ACTCCT/CCTGAA 1 -- int11Minor allele frequency- C:0.04WA 118
    rs1445422781,2
    C--5995304(+) GGTTGA/GTCCCT 1 -- int10--------
    rs788841991,2
    F--5995352(+) GAGACA/GAAACG 1 -- int11Minor allele frequency- G:0.01NA 120
    rs773436101,2
    F--5995356(+) CAAAAC/TGACAG 1 -- int11Minor allele frequency- T:0.01NA 120
    rs7231881,2
    C,F,O,A,H--5995357(+) AAAACG/AACAGC 1 -- int131Minor allele frequency- A:0.31NA NS EA WA CSA 2817
    rs7231891,2
    C,F,A,H--5995411(+) CCACAT/CGGGAG 1 -- int128Minor allele frequency- C:0.45NA EA NS WA CSA 1338
    rs7231901,2
    C,F,A,H--5995426(+) TTTGCT/CGTCTG 1 -- int118Minor allele frequency- C:0.08NA NS EA WA 2198
    rs1154541431,2
    F--5995444(+) ACGAGT/CTGGAG 1 -- int11Minor allele frequency- C:0.02WA 118
    rs1474299051,2
    --5995486(+) ACTTCA/GTAAGG 1 -- int10--------
    rs1455810631,2
    C--5995632(+) CTAAC-/CACACAT 1 -- int10--------
    rs1409396601,2
    C--5995725(+) ACAGT-/AAAAAA 1 -- int10--------
    rs1144469201,2
    C,F--5995815(+) CCCCAG/ATATTG 1 -- int12Minor allele frequency- A:0.10WA NA 238
    rs1855333351,2
    --5995818(+) CAGTAA/TTGCAA 1 -- int10--------
    rs108493601,2
    C,A,H--5995838(+) AGGAAC/TTTTTT 1 -- int1 trp311Minor allele frequency- T:0.44NA WA CSA EA 372
    rs783298631,2
    C--5995866(+) TTTTAG/AGGTAC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs123056761,2
    C,F,A--5995898(+) gttacG/Atatgt 1 -- int16Minor allele frequency- A:0.45NA WA CSA 11
    rs123195981,