SNP Detail For rs1063857
1.Mapping Information
Human SNP ID rs1063857
Human chromosome chr12
Human SNP position 6044348
Pig chromosome chr5
Pig SNP position 67055478
2.Annotation Information
PubMed ID20231535
JournalCirculation
Linkwww.ncbi.nlm.nih.gov/pubmed/20231535
StudyNovel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.
Disease/TraitvWF levels
Initial sample17,596 European ancestry individuals
Replication sampleUp to 7,604 European ancestry individuals
Region12p13.31
Chromosome idchr12
Chromosome position6044348
Reported geneVWF
Mapped geneVWF
Upstream gene id
Downstream gene id
SNP gene ids7450
Upstream gene distance
Downstream gene distance
SNP risk allelers1063857-?
SNPsrs1063857
Merged0
SNP id current1063857
Contextsynonymous_variant
Intergenic0
Allele frequencyNR
P value2E-32
Pvalue mlog31.698970004336
P value text
Or beta6
%95 Ci[3.2-8.8] unit increase
PlatformAffymetrix, Illumina [2742821] (imputed)
CNVN
Mapped traitvon Willebrand factor measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004629
Study accessionGCST000627
PubMed ID23267103
JournalProc Natl Acad Sci U S A
Linkwww.ncbi.nlm.nih.gov/pubmed/23267103
StudyLinkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
Disease/TraitCoagulation factor levels
Initial sample3,250 European ancestry individuals, up to 212 individuals
Replication sampleNA
Region12p13.31
Chromosome idchr12;12
Chromosome position6044368;6044348
Reported geneVWF
Mapped geneVWF; VWF
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers1063856-?; rs1063857-?
SNPsrs1063856; rs1063857
Merged0
SNP id current
Contextmissense_variant; synonymous_variant
Intergenic
Allele frequencyNR
P value0.0000006
Pvalue mlog6.22184874961635
P value text
Or beta
%95 Ci
PlatformIllumina [723716]
CNVN
Mapped traitcoagulation factor measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004634
Study accessionGCST001793