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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VWF Gene

protein-coding   GIFtS: 70
GCID: GC12M006058

Von Willebrand Factor


(Previous symbol: F8VWF)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and Coagulation Cascades. GO annotations related to this gene include integrin binding and protein homodimerization activity. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009759.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for VWF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Secreted. Secreted, extracellular space, extracellular matrix. Note=Localized to storage
granules
Sequence caution: Sequence=AAB59512.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part;
6/22 PDB 3D structures from and Proteopedia for VWF (see all 22):
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:

  • UniProtKB: All cysteine residues are involved in intrachain or interchain disulfide bonds
  • UniProtKB: N- and O-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P04275

  • VWF Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VWF Protein Expression
    REFSEQ proteins: NP_000543.2  
    ENSEMBL proteins: 
     ENSP00000261405   ENSP00000461331   ENSP00000459134   ENSP00000461318  
    Reactome Protein details: P04275
    Human Recombinant Protein Products for VWF: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for VWF (vWF-A2)
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    Novus Biologicals VWF Protein
    Novus Biologicals VWF Lysates
    Sino Biological Recombinant Protein for VWF
    Sino Biological Cell Lysate for VWF 
    ProSpec Recombinant Protein for VWF
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    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

    VWF for ontologies           About GeneDecksing



    VWF Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR014853 Unchr_dom_Cys-rich
     IPR012011 VWF
     IPR002919 TIL_dom
     IPR006207 Cys_knot_C
     IPR001007 VWF_C

    Graphical View of Domain Structure for InterPro Entry P04275

    ProtoNet protein and cluster: P04275

    5/6 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


    VWF for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (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
         
    VWF for ontologies           About GeneDecksing


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

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vwf):
     cardiovascular system  cellular  digestive/alimentary  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  nervous system 

    VWF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Vwftm1Wgr for VWF

       inGenious Targeting Laboratory - Custom generated mouse model solutions for VWF 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    Inhib. RNA
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    Gene Editing
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    Clone
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for VWF About   (see all 14)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.59
    Blood Coagulation Signaling Pathways0.51
    Intrinsic Pathway0.59
    Blood Clotting Cascade0.42
    2Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    3Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    4Non-integrin membrane-ECM interactions
    ECM-receptor interaction0.42
    Integrin cell surface interactions0.32
    5Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for VWF
        Selected targets of C/EBPbeta

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


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


    5/14        Reactome Pathways for VWF (see all 14)
        Hemostasis
    Platelet Adhesion to exposed collagen
    Integrin cell surface interactions
    GP1b-IX-V activation signalling
    Intrinsic Pathway

    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


    VWF for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VWF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/37 Interacting proteins for VWF (P042751, 2, 3 ENSP000002614054) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF512BQ96KM62, 3MINT-60830 I2D: score=2 
    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
    COL1A1P024523, ENSP000002259644I2D: score=3 STRING: ENSP00000225964
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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--

    VWF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    VWF for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/135 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)

    Search CenterWatch for drugs/clinical trials and news about VWF

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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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 

    24/349 AceView cDNA sequences (see all 349):

    AW516991 X02672 BQ024352 BU077753 CA434711 BM931624 AA683280 CB266865 
    CD743187 AI131038 BM699079 T27768 AA323834 BQ722193 BQ709973 AL549326 
    BQ003750 AU140697 BQ882131 X04385 AU158381 AA304286 BQ898017 AU141516 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VWF expression in normal human tissues (normalized intensities)      VWF embryonic expression: see
    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 
     5/29 selected tissues (see all 29) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 39 entries
             Pericytes Microvessels
             PureStem endothelial progenitor 30-SM2-1
             Endothelial-like cells ( Generation of hematopoietic and endothelial progenitor cells...
             Human Pulmonary Microvascular Endothelial Cells (HPMEC)   
     
     Heart (Cardiovascular System)    fully expand to see all 7 entries
             Heart Tube
             Cardiac progenitor cells
             Human Cardiac Myocytes-adult (HCM-a)   
             mouse/organ system/cardiovascular system   
     
     Blood (Hematopoietic System)    fully expand to see all 7 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             PureStem endothelial Progenitor 30-SM2-3
             bone marrow   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 6 entries
             Wharton's jelly-derived stem cells
             Human Umbilical Vein Endothelial Cells (HUVEC) (BioTime)   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             colon ; endothelial cells   
             Appendix   

    See VWF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VWF

    SOURCE GeneReport for Unigene cluster: Hs.440848

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

        SABiosciences Expression via Pathway-Focused 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
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat VWF
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VWF
    QIAGEN 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

    This gene was present in the common ancestor of animals.

    Orthologs for VWF gene from 5/11 species (see all 11)    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 61.76(n)
    56.69(a)
      419031  XM_417223.3  XP_417223.3 
    lizard
    (Anolis carolinensis)
    Reptilia VWF6
    Uncharacterized protein
    54(a)
    1 ↔ 1
    5(81821509-82024856)
    zebrafish
    (Danio rerio)
    Actinopterygii vwf1 von Willebrand factor 56.16(n)
    47.86(a)
      570643  XM_002665310.2  XP_002665356.2 
    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
    Paralogs for VWF gene
    MUC5AC2  ZAN2  TECTA2  OTOG2  OTOGL2  MUC5B2  MUC62  MUC192  
    FCGBP2  BMPER2  
    3 SIMAP similar genes for VWF using alignment to 5 protein entries:     VWF_HUMAN (see all proteins):
    COL21A1    FCGBP    MG1

    VWF for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    4247/5204 SNPs in VWF are shown (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
    ----------
    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--------
    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
    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
    VAR_0570244
    ----see VAR_0570242 M I mis40--------
    VAR_0057884
    ----see VAR_0057882 Q R mis40--------
    VAR_0057904
    ----see VAR_0057902 N D mis40--------
    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
    rs123195981,2
    C,F,A--5996001(+) ccacaC/Acagtc 1 -- int13Minor allele frequency- A:0.40NA CSA 5
    rs1891943591,2
    --5996072(+) TGAGTA/GAGAAC 1 -- int10--------
    rs128199221,2
    C,F--5996144(+) tccatG/Atccct 1 -- int12Minor allele frequency- A:0.50NA 4
    rs110639531,2
    C,F,H--5996522(+) AGATCA/GATAGA 1 -- int120Minor allele frequency- G:0.20NS EA NA WA CSA 2224
    rs1926811731,2
    --5996631(+) ACAGTC/TATGGG 1 -- int10--------
    rs107743881,2
    C,F,A,H--5996776(+) CAGGTG/ATAAAC 1 -- int19Minor allele frequency- A:0.40NA WA CSA 251
    rs1513092621,2
    --5996844(+) GATAAG/TGTATG 1 -- int10--------
    rs1178894301,2
    C,F--5997068(+) CCTGCG/ATAGGC 1 -- int11Minor allele frequency- A:0.04EA 120
    rs10849361