Human SNP ID | rs8176743 |
---|---|
Human chromosome | chr9 |
Human SNP position | 133256028 |
Pig chromosome | chr6 |
Pig SNP position | 39924531 |
PubMed ID | 25173106 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25173106 |
Study | Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. |
Disease/Trait | Intraocular pressure |
Initial sample | 7,738 Asian ancestry individuals, 27,558 European ancestry individuals |
Replication sample | NA |
Region | 9q34.2 |
Chromosome id | chr9 |
Chromosome position | 133256028 |
Reported gene | ABO |
Mapped gene | ABO |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 28 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs8176743-T |
SNPs | rs8176743 |
Merged | 0 |
SNP id current | 8176743 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000000003 |
Pvalue mlog | 10.5228787452803 |
P value text | |
Or beta | 0.261 |
%95 Ci | [0.18-0.34] mm Hg increase |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | intraocular pressure measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004695 |
Study accession | GCST002580 |
PubMed ID | 23381943 |
Journal | Ann Neurol |
Link | www.ncbi.nlm.nih.gov/pubmed/23381943 |
Study | Ischemic stroke is associated with the ABO locus: the EuroCLOT study. |
Disease/Trait | End-stage coagulation |
Initial sample | 2,100 European ancestry individuals |
Replication sample | NA |
Region | 9q34.2 |
Chromosome id | chr9 |
Chromosome position | 133256028 |
Reported gene | ABO |
Mapped gene | ABO |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 28 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs8176743-C |
SNPs | rs8176743 |
Merged | 0 |
SNP id current | 8176743 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.939 |
P value | 0.00000000000000002 |
Pvalue mlog | 16.698970004336 |
P value text | (vWF) |
Or beta | 0.582 |
%95 Ci | [0.45-0.72] unit decrease |
Platform | Illumina [NR] (imputed) |
CNV | N |
Mapped trait | von Willebrand factor measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004629 |
Study accession | GCST001798 |