Human SNP ID | rs385893 |
---|---|
Human chromosome | chr9 |
Human SNP position | 4763176 |
Pig chromosome | chr1 |
Pig SNP position | 243057470 |
PubMed ID | 19820697 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19820697 |
Study | A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. |
Disease/Trait | Hematological parameters |
Initial sample | 4,627 European ancestry individuals |
Replication sample | 9,316 European ancestry individuals |
Region | 9p24.1 |
Chromosome id | chr9 |
Chromosome position | 4763176 |
Reported gene | AK3 |
Mapped gene | AK3 - RPS5P6 |
Upstream gene id | 50808 |
Downstream gene id | 392282 |
SNP gene ids | |
Upstream gene distance | 21133 |
Downstream gene distance | 18241 |
SNP risk allele | rs385893-C |
SNPs | rs385893 |
Merged | 0 |
SNP id current | 385893 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.00000000000000009 |
Pvalue mlog | 16.0457574905606 |
P value text | (PLT) |
Or beta | 6.26 |
%95 Ci | [4.78-7.74] 10^9/l increase |
Platform | Affymetrix, Illumina [~ 2110000] (imputed) |
CNV | N |
Mapped trait | platelet count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004309 |
Study accession | GCST000498 |
PubMed ID | 20139978 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Platelet count |
Initial sample | 14,806 Japanese ancestry individuals |
Replication sample | NA |
Region | 9p24.1 |
Chromosome id | chr9 |
Chromosome position | 4763176 |
Reported gene | AK3 |
Mapped gene | AK3 - RPS5P6 |
Upstream gene id | 50808 |
Downstream gene id | 392282 |
SNP gene ids | |
Upstream gene distance | 21133 |
Downstream gene distance | 18241 |
SNP risk allele | rs385893-C |
SNPs | rs385893 |
Merged | 0 |
SNP id current | 385893 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.76 |
P value | 0.0000000000003 |
Pvalue mlog | 12.5228787452803 |
P value text | |
Or beta | 5.928 |
%95 Ci | [4.344-7.507] unit increase |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | platelet count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004309 |
Study accession | GCST000580 |
PubMed ID | 20139978 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Platelet count |
Initial sample | 14,806 Japanese ancestry individuals |
Replication sample | NA |
Region | 9p24.1 |
Chromosome id | chr9 |
Chromosome position | 4763176 |
Reported gene | RCL1 |
Mapped gene | AK3 - RPS5P6 |
Upstream gene id | 50808 |
Downstream gene id | 392282 |
SNP gene ids | |
Upstream gene distance | 21133 |
Downstream gene distance | 18241 |
SNP risk allele | rs385893-T |
SNPs | rs385893 |
Merged | 0 |
SNP id current | 385893 |
Context | regulatory_region_variant |
Intergenic | 1 |
Allele frequency | 0.25 |
P value | 0.0000000000003 |
Pvalue mlog | 12.5228787452803 |
P value text | |
Or beta | 0.099 |
%95 Ci | [0.072-0.126] unit decrease |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | platelet count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004309 |
Study accession | GCST000580 |