ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Von Willebrand factorLO000259QVWF1212p13.3-p13.2
Synonyms: F8VWF ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence    ISTH SSC VWF Database    VWF Alu repeat sequence   GenBank sequence   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: VWF is an adhesive plasma glycoprotein synthesized in endothelial cells (Jaffe et al. 1974) [PMID: 4209883] and megakaryocytes (Nachman et al. 1977). The central role of VWF is to mediate platelet adhesion to damaged vascular subendothelium and subsequent platelet aggregation. The VWF gene, located on the short arm of chromosome 12, spans 178 kb and consists of 52 exons. The exons vary from 40 to 1379 bp in length, and the introns vary from 97 bp to approximately 19.9 kb (Mancuso et al., 1989) [PMID: 2584182]. A number of repetitive sequences were identified including 14 Alu repeats at the 5' end of VWF locus (Ferreira et al., 1993) [PMID: 8352730] and three TCTA repeats in intron 40 region at chromosome 12p12-pter, which are located between nucleotides 1900-2000 (Peake et al., 1990) [PubMed ID: 2378985], 2215-2380 (van Amstel and Reitsma, 1990) [PubMed ID: 2395671], and 1640-1794 (Kimpton et al., 1990) [PubMed ID: 1303199].
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
vWA compound STRP   5963500202
NlaIV rs216321    60142457
rs2270151rs2270151   606096051
rs2286646rs2286646   606149151
rs12317523rs12317523   606314250
rs723188rs723188   606390563
rs7964554rs7964554   606715251
rs2363309rs2363309   607083951
rs12368267rs12368267   607151651
rs12369177rs12369177   607352051
rs11063961rs11063961   607401650
rs12300917rs12300917   607905850
rs917857rs917857   608182451
rs917858rs917858   608193814
rs917859rs917859   608211363
rs1159993rs1159993   608356450
rs4764521rs4764521   608432350
rs216856rs216856   608626551
rs216867rs216867   609100051
rs216872rs216872   609354050
rs2058473rs2058473   609392651
rs2070887rs2070887   609395251
rs7964799rs7964799   609745850
rs216883rs216883   609765750
rs216889rs216889   609945351
rs216896rs216896   610079651
rs10849376rs10849376   610290751
rs17491334rs17491334   610384450
rs216904rs216904   610601851
rs216809rs216809   611428351
rs216811rs216811   611527451
rs216309rs216309   612692750
KpnI rs1800386   61278337
V1565Lrs1800385   61278917
D1472Hrs1800383   61281707
HphI rs216311   61284437
rs216312rs216312   612898451
rs216313rs216313   612926450
rs11611917rs11611917   613663451
rs11610629rs11610629   613745650
rs216321rs216321   614398451
rs12810426rs12810426   614413850
rs216329rs216329   614650750
rs1860365rs1860365   614711050
rs216334rs216334   614761151
rs216335rs216335   614800551
rs216338rs216338   614832650
rs216340rs216340   614979950
RsaI rs1063856   61535349
6-site haplotype (RsaI, NlaIV, HphI, D1472H, V1565L, KpnI)   61535347
rs216293rs216293   615365951
rs216298rs216298   615647751
rs2283333rs2283333   616285251
rs980130rs980130   616902751
rs980131rs980131   616919851
rs7139057rs7139057   616932350
rs4764482rs4764482   616973351
rs12319392rs12319392   617048650
rs1800378rs1800378   617220251
rs2283332rs2283332   617472951
rs7955850rs7955850   617557951
rs3782711rs3782711   618318151
rs2238104rs2238104   618766551
rs2239144rs2239144   619618351
rs2239140rs2239140   620044350
rs11064024rs11064024   620204950
rs11836843rs11836843   620281851
rs7306706rs7306706   621563451
rs10849387rs10849387   623847950
VWF (TCTA) n repeat 2   14
VWF (TCTA)n repeat 1   7

References:
- Da Silva WA Jr, Bortolini MC, Meyer D, Salzano FM, Elion J, Krishnamoorthy R, Schneider MP, De Guerra DC, Layrisse Z, Castellano HM, Weimer TD, Zago MA. "Genetic diversity of two African and sixteen South American populations determined on the basis of six hypervariable loci.". Am. J. Phys. Anthropol. 109:425-437. (1999) Online citation.

- Drmic I, Schanfield MS, Andjelinovic S, Galavotti R, Gojanovic MD, Trabetti E, Marasovic D, Primorac D, Pignatti PF. "Allele Frequency of Six Highly Polymorphic DNA loci in the Croatian Population". Hum. Biol. 70:949-957. (1998) Online citation.

- Ferreira V, Assouline Z, Schwachtgen JL, Bahnak BR, Meyer D, Kerbiriou-Nabias D. "The role of the 5'-flanking region in the cell-specific transcription of the human von Willebrand factor gene". Biochem. J. 293:641-8. (1993) Online citation.

- Jaffe EA, Hoyer LW, Nachman RL. "Synthesis of von Willebrand factor by cultured human endothelial cells". Proc. Natl. Acad. Sci. U. S. A. 71:1906-9. (1974) Online citation.

- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.

- Kimpton C, Walton A, Gill P. "A further tetranucleotide repeat polymorphism in the vWF gene". Hum. Mol. Genet. 1:287. (1992) Online citation.

- Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, Alevy YG, Sadler JE. "Structure of the gene for human von Willebrand factor". J. Biol. Chem. 264:19514-27. (1989) Online citation.

- Nachman RL, Levine R, Jaffe EA. "Synthesis of factor VIII antigen by cultured guinea pig megakaryocytes". Journal of Clinical Investigation 60:914-921. (1977)

- Peake IR, Bowen D, Bignell P, Liddell MB, Sadler JE, Standen G, Bloom AL. "Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene". Blood 76:555-61. (1990) Online citation.

- Sala A, Penacino G, Corach D. "Comparison of allele frequencies of eight STR loci from Argentinian Amerindian and European populations". Hum. Biol. 70:937-47. (1998) Online citation.

- Simon D, Bandinelli E, Roisenberg I. "Von Willebrand factor gene polymorphisms in three Brazilian ethnic groups". Hum. Biol. 72:1055-1063. (2000) Online citation.

- van Amstel HK, Reitsma PH. "Tetranucleotide repeat polymorphism in the vWF gene". Nucleic Acids Res. 18:4957. (1990) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan