Human SNP ID | rs2070729 |
---|---|
Human chromosome | chr5 |
Human SNP position | 132484229 |
Pig chromosome | chr2 |
Pig SNP position | 140231219 |
PubMed ID | 22139419 |
---|---|
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/22139419 |
Study | New gene functions in megakaryopoiesis and platelet formation. |
Disease/Trait | Platelet count |
Initial sample | 47,005 European ancestry individuals, 1,661 Val Borbera individuals |
Replication sample | Up to 18,838 European ancestry individuals |
Region | 5q31.1 |
Chromosome id | chr5 |
Chromosome position | 132484229 |
Reported gene | IRF1 |
Mapped gene | IRF1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 3659 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2070729-A |
SNPs | rs2070729 |
Merged | 0 |
SNP id current | 2070729 |
Context | non_coding_transcript_exon_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.0000000001 |
Pvalue mlog | 10 |
P value text | |
Or beta | 2.394 |
%95 Ci | [1.67-3.12] 10^9/l increase |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | platelet count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004309 |
Study accession | GCST001337 |