Have questions? Visit https://www.reddit.com/r/SNPedia

rs34230288

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs34230288(G;T)
Make rs34230288(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position5993928
GeneVWF
is asnp
is mentioned by
dbSNPrs34230288
ebirs34230288
HLIrs34230288
Exacrs34230288
Varsomers34230288
Maprs34230288
PheGenIrs34230288
hapmaprs34230288
1000 genomesrs34230288
hgdprs34230288
ensemblrs34230288
gopubmedrs34230288
geneviewrs34230288
scholarrs34230288
googlers34230288
pharmgkbrs34230288
gwascentralrs34230288
openSNPrs34230288
23andMers34230288
23andMe allrs34230288
SNP Nexus

SNPshotrs34230288
SNPdbers34230288
MSV3drs34230288
GWAS Ctlgrs34230288
GMAF0.009183
Max Magnitude0
Venter snp
Source plos
Gene VWF
allele A
frequency
sift TOLERATED
HuRef 1103649355553
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.



GET Evidence
VWF-A2178S
aa_change Ala2178Ser
aa_change_short A2178S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0158022
summary