Human SNP ID | rs1063857 |
---|---|
Human chromosome | chr12 |
Human SNP position | 6044348 |
Pig chromosome | chr5 |
Pig SNP position | 67055478 |
PubMed ID | 20231535 |
---|---|
Journal | Circulation |
Link | www.ncbi.nlm.nih.gov/pubmed/20231535 |
Study | Novel 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/Trait | vWF levels |
Initial sample | 17,596 European ancestry individuals |
Replication sample | Up to 7,604 European ancestry individuals |
Region | 12p13.31 |
Chromosome id | chr12 |
Chromosome position | 6044348 |
Reported gene | VWF |
Mapped gene | VWF |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 7450 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1063857-? |
SNPs | rs1063857 |
Merged | 0 |
SNP id current | 1063857 |
Context | synonymous_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 2E-32 |
Pvalue mlog | 31.698970004336 |
P value text | |
Or beta | 6 |
%95 Ci | [3.2-8.8] unit increase |
Platform | Affymetrix, Illumina [2742821] (imputed) |
CNV | N |
Mapped trait | von Willebrand factor measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004629 |
Study accession | GCST000627 |
PubMed ID | 23267103 |
Journal | Proc Natl Acad Sci U S A |
Link | www.ncbi.nlm.nih.gov/pubmed/23267103 |
Study | Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. |
Disease/Trait | Coagulation factor levels |
Initial sample | 3,250 European ancestry individuals, up to 212 individuals |
Replication sample | NA |
Region | 12p13.31 |
Chromosome id | chr12;12 |
Chromosome position | 6044368;6044348 |
Reported gene | VWF |
Mapped gene | VWF; VWF |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1063856-?; rs1063857-? |
SNPs | rs1063856; rs1063857 |
Merged | 0 |
SNP id current | |
Context | missense_variant; synonymous_variant |
Intergenic | |
Allele frequency | NR |
P value | 0.0000006 |
Pvalue mlog | 6.22184874961635 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Illumina [723716] |
CNV | N |
Mapped trait | coagulation factor measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004634 |
Study accession | GCST001793 |