SNP Detail For rs732505
1.Mapping Information
Human SNP ID rs732505
Human chromosome chr19
Human SNP position 5582524
Pig chromosome chr2
Pig SNP position 74080803
2.Annotation Information
PubMed ID21810271
JournalBMC Med Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21810271
StudyCombined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
Disease/TraitvWF and FVIII levels
Initial sample1,624 European ancestry individuals
Replication sampleNA
Region19p13.3
Chromosome idchr19
Chromosome position5582524
Reported geneSAFB2
Mapped geneSNRPEP4 - SAFB2
Upstream gene id100130109
Downstream gene id9667
SNP gene ids
Upstream gene distance5573
Downstream gene distance4469
SNP risk allelers732505-A
SNPsrs732505
Merged0
SNP id current732505
Contextdownstream_gene_variant
Intergenic1
Allele frequency0.09
P value0.000009
Pvalue mlog5.04575749056067
P value text(vWF levels)
Or beta0.25
%95 Ci[0.13-0.37] IU/dL increase
PlatformIllumina [442728]
CNVN
Mapped traitvon Willebrand factor measurement, coagulation factor measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004629, http://www.ebi.ac.uk/efo/EFO_0004634
Study accessionGCST001188