VWF Q852R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!



(VWF Gln852Arg)

Short summary


Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism p value: 0.999999; protein features (might be) affected.
GVGD: GV 42.81; GD 0.00; Class C0
Multi-alignment of P04275.4 RecName: Full=von Willebrand factor [Homo sapiens] with: XP_001160508.1 [Pan troglodytes] DAA34809.1 [Pongo abelii] XP_003273761.1 [Nomascus leucogenys] DAA34805.1 [Macaca mulatta] XP_002752289.1 [Callithrix jacchus] DAA34802.1 [Felis catus] DAA34797.1 [Canis lupus familiaris] AAD04919.1 [Canis lupus familiaris] Q28295.2 RecName: Full=von Willebrand factor; Short=vWF; Flags: Precursor NP_001002932.1 [Canis lupus familiaris]

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr12:6143984: 92.4% (9938/10758) in EVS
  • C @ chr12:6014244: 92.2% (118/128) in GET-Evidence
  • Frequency shown in summary reports: 92.4% (9938/10758)





hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr12:6143984


hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr12:6143984


hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom C @ chr12:6143984















hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr12:6143984




hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr12:6143984








hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr12:6143984





huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr12:6143984




huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr12:6143984


huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr12:6143984





huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr12:6143984




GS06985 - var-GS06985-1100-36-ASM
hom C @ chr12:6014245


GS06994 - var-GS06994-1100-36-ASM
hom C @ chr12:6014245


GS07357 - var-GS07357-1100-36-ASM
hom C @ chr12:6014245


GS10851 - var-GS10851-1100-36-ASM
hom C @ chr12:6014245


GS12004 - var-GS12004-1100-36-ASM
hom C @ chr12:6014245


GS18501 - var-GS18501-1100-36-ASM
hom C @ chr12:6014245


GS18502 - var-GS18502-1100-36-ASM
hom C @ chr12:6014245


GS18504 - var-GS18504-1100-36-ASM
hom C @ chr12:6014245


GS18505 - var-GS18505-1100-36-ASM
hom C @ chr12:6014245


GS18508 - var-GS18508-1100-36-ASM
het C @ chr12:6014245


GS18517 - var-GS18517-1100-36-ASM
hom C @ chr12:6014245


GS18526 - var-GS18526-1100-36-ASM
het C @ chr12:6014245


GS18537 - var-GS18537-1100-36-ASM
het C @ chr12:6014245


GS18555 - var-GS18555-1100-36-ASM
hom C @ chr12:6014245


GS18558 - var-GS18558-1100-36-ASM
het C @ chr12:6014245


GS18940 - var-GS18940-1100-36-ASM
hom C @ chr12:6014245


GS18942 - var-GS18942-1100-36-ASM
hom C @ chr12:6014245


GS18947 - var-GS18947-1100-36-ASM
hom C @ chr12:6014245


GS18956 - var-GS18956-1100-36-ASM
het C @ chr12:6014245


GS19017 - var-GS19017-1100-36-ASM
hom C @ chr12:6014245


GS19020 - var-GS19020-1100-36-ASM
hom C @ chr12:6014245


GS19025 - var-GS19025-1100-36-ASM
hom C @ chr12:6014245


GS19026 - var-GS19026-1100-36-ASM
hom C @ chr12:6014245


GS19129 - var-GS19129-1100-36-ASM
hom C @ chr12:6014245


GS19238 - var-GS19238-1100-36-ASM
hom C @ chr12:6014245


GS19239 - var-GS19239-1100-36-ASM
hom C @ chr12:6014245


GS19240 - var-GS19240-1100-36-ASM
hom C @ chr12:6014245


GS19648 - var-GS19648-1100-36-ASM
hom C @ chr12:6014245


GS19649 - var-GS19649-1100-36-ASM
hom C @ chr12:6014245


GS19669 - var-GS19669-1100-36-ASM
hom C @ chr12:6014245


GS19670 - var-GS19670-1100-36-ASM
hom C @ chr12:6014245


GS19700 - var-GS19700-1100-36-ASM
hom C @ chr12:6014245


GS19701 - var-GS19701-1100-36-ASM
hom C @ chr12:6014245


GS19703 - var-GS19703-1100-36-ASM
hom C @ chr12:6014245


GS19704 - var-GS19704-1100-36-ASM
hom C @ chr12:6014245


GS19735 - var-GS19735-1100-36-ASM
hom C @ chr12:6014245


GS19834 - var-GS19834-1100-36-ASM
hom C @ chr12:6014245


GS20502 - var-GS20502-1100-36-ASM
hom C @ chr12:6014245


GS20509 - var-GS20509-1100-36-ASM
hom C @ chr12:6014245


GS21767 - var-GS21767-1100-36-ASM
hom C @ chr12:6014245


Other external references

  • rs216321
    Web search results (12 hits -- see all)
  • Abstract 3140: A Variant in the von Willebrand Factor Gene is ...
    High circulating vWF levels are associated with myocardial infarction, ... Each copy of Q852R was additively associated with a 13% lower level of vWF (adjusted for ...
  • Perhimpunan Dokter Paru Indonesia - Kerentanan Genetik ...
    Flu Burung membuat sejarah dalam dunia kesehatan, melalui apakah penyebaran virusnya? ... 1 Lys469Glu and Von Willebrands Factor (VWF) Q852R were not different, while Factor VII ...
  • Perhimpunan Dokter Paru Indonesia - .Kerentanan Genetik ...
    Genetic Susceptibility to Severe Community-Acquired Pneumonia (CAP) in Buenos Aires ... 1 Lys469Glu and Von Willebrands Factor (VWF) Q852R were not different, while Factor VII ...
  • 279. Evaluation of risk factors in community-acquired pneumonia
    (ICAM)-1 Lys469Glu and Von Willebrands Factor (VWF) Q852R were not dif ... VWF Ala381Thr, VWF Thr789Ala, Protein C Receptor Ser219Gly and Protein C ...
  • AceView: Gene:VWF, a comprehensive annotation of human, mouse ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • ERS - Programme
    Genetic susceptibility to severe community-acquired pneumonia (CAP) in Buenos Aires ... 1 Lys469Glu and Von Willebrands Factor (VWF) Q852R were not different, while Factor VII ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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