Human SNP ID | rs17310467 |
---|---|
Human chromosome | chr20 |
Human SNP position | 34957813 |
Pig chromosome | chr17 |
Pig SNP position | 43541152 |
PubMed ID | 22443383 |
---|---|
Journal | Br J Haematol |
Link | www.ncbi.nlm.nih.gov/pubmed/22443383 |
Study | Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. |
Disease/Trait | Hemostatic factors and hematological phenotypes |
Initial sample | 951 European ancestry individuals |
Replication sample | NA |
Region | 20q11.22 |
Chromosome id | chr20;20;20;20 |
Chromosome position | 35157873;35176751;35165459;34957813 |
Reported gene | GSS, EDEM2, PROCR |
Mapped gene | EDEM2 - PROCR; PROCR; EDEM2 - PROCR; MYH7B |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs6088735-?; rs867186-?; rs6060278-?; rs17310467-? |
SNPs | rs6088735; rs867186; rs6060278; rs17310467 |
Merged | 0 |
SNP id current | |
Context | intergenic_variant; missense_variant; intergenic_variant; upstream_gene_variant |
Intergenic | |
Allele frequency | 0.105 |
P value | 4E-34 |
Pvalue mlog | 33.397940008672 |
P value text | (PC levels) |
Or beta | 19.273 |
%95 Ci | [16.174-22.372] iu/ml increase GCTG |
Platform | Illumina [472123] |
CNV | N |
Mapped trait | protein C measurement, hematological measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004633, http://www.ebi.ac.uk/efo/EFO_0004503 |
Study accession | GCST001378 |