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

rs1800378

From SNPedia

Orientationminus
Stabilizedminus
Make rs1800378(A;A)
Make rs1800378(A;G)
Make rs1800378(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6063036
GeneVWF
is asnp
is mentioned by
dbSNPrs1800378
ebirs1800378
HLIrs1800378
Exacrs1800378
Varsomers1800378
Maprs1800378
PheGenIrs1800378
hapmaprs1800378
1000 genomesrs1800378
hgdprs1800378
ensemblrs1800378
gopubmedrs1800378
geneviewrs1800378
scholarrs1800378
googlers1800378
pharmgkbrs1800378
gwascentralrs1800378
openSNPrs1800378
23andMers1800378
23andMe allrs1800378
SNP Nexus

SNPshotrs1800378
SNPdbers1800378
MSV3drs1800378
GWAS Ctlgrs1800378
GMAF0.4775
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene VWF
allele C
frequency 0.638
sift TOLERATED
HuRef 1103649355761
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-H484R
aa_change His484Arg
aa_change_short H484R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.50344
summary