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rs216321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs216321(C;T)
Make rs216321(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6034818
GeneVWF
is asnp
is mentioned by
dbSNPrs216321
ebirs216321
HLIrs216321
Exacrs216321
Varsomers216321
Maprs216321
PheGenIrs216321
hapmaprs216321
1000 genomesrs216321
hgdprs216321
ensemblrs216321
gopubmedrs216321
geneviewrs216321
scholarrs216321
googlers216321
pharmgkbrs216321
gwascentralrs216321
openSNPrs216321
23andMers216321
23andMe allrs216321
SNP Nexus

SNPshotrs216321
SNPdbers216321
MSV3drs216321
GWAS Ctlgrs216321
GMAF0.1028
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene VWF
allele C
frequency 0.908
sift TOLERATED
HuRef 1103649355682
Disease Association Defects in VWF are associated with various forms of von Willebrand disease (VWD) (MIM:193400, 277480). VWD is characterized by frequent bleeding (gingival, minor skin quantitative lacerations, menorrhagia, etc.). Type I VWD is associated with a deficiency of VWF; type II by normal to decreased plasma level of VWF; type III by a virtual absence of VWF. There are subtypes (A to H) of type II VWD; for example: type IIA is characterized by the absence of VWF high molecular weight multimers in plasma.



[PMID 18598365OA-icon.png] Analytical approaches to detect maternal/fetal genotype incompatibilities that increase risk of pre-eclampsia.


[PMID 22568520] von Willebrand factor plasma levels, genetic variations and coronary heart disease in an older population.


GET Evidence
VWF-Q852R
aa_change Gln852Arg
aa_change_short Q852R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.923778
summary



[PMID 25779970] Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans