SNP Detail For rs6060278
1.Mapping Information
Human SNP ID rs6060278
Human chromosome chr20
Human SNP position 35165459
Pig chromosome chr17
Pig SNP position 43722607
2.Annotation Information
PubMed ID22443383
JournalBr J Haematol
Linkwww.ncbi.nlm.nih.gov/pubmed/22443383
StudyGenome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
Disease/TraitHemostatic factors and hematological phenotypes
Initial sample951 European ancestry individuals
Replication sampleNA
Region20q11.22
Chromosome idchr20;20;20;20
Chromosome position35157873;35176751;35165459;34957813
Reported geneGSS, EDEM2, PROCR
Mapped geneEDEM2 - PROCR; PROCR; EDEM2 - PROCR; MYH7B
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers6088735-?; rs867186-?; rs6060278-?; rs17310467-?
SNPsrs6088735; rs867186; rs6060278; rs17310467
Merged0
SNP id current
Contextintergenic_variant; missense_variant; intergenic_variant; upstream_gene_variant
Intergenic
Allele frequency0.105
P value4E-34
Pvalue mlog33.397940008672
P value text(PC levels)
Or beta19.273
%95 Ci[16.174-22.372] iu/ml increase GCTG
PlatformIllumina [472123]
CNVN
Mapped traitprotein C measurement, hematological measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004633, http://www.ebi.ac.uk/efo/EFO_0004503
Study accessionGCST001378