Human SNP ID | rs649729 |
---|---|
Human chromosome | chr2 |
Human SNP position | 31241519 |
Pig chromosome | chr3 |
Pig SNP position | 114851501 |
PubMed ID | 22139419 |
---|---|
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/22139419 |
Study | New gene functions in megakaryopoiesis and platelet formation. |
Disease/Trait | Mean platelet volume |
Initial sample | 16,948 European ancestry individuals, 1,652 Val Borbera individuals |
Replication sample | Up to 18,838 European ancestry individuals |
Region | 2p23.1 |
Chromosome id | chr2 |
Chromosome position | 31241519 |
Reported gene | EHD3 |
Mapped gene | EHD3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 30845 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs649729-T |
SNPs | rs649729 |
Merged | 0 |
SNP id current | 649729 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000000000001 |
Pvalue mlog | 12 |
P value text | |
Or beta | 0.008 |
%95 Ci | [0.006-0.01] ln(fl) increase |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | mean platelet volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004584 |
Study accession | GCST001335 |
PubMed ID | 24026423 |
Journal | Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24026423 |
Study | A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. |
Disease/Trait | Mean platelet volume |
Initial sample | 6,291 European ancestry individuals |
Replication sample | NA |
Region | 2p23.1 |
Chromosome id | chr2 |
Chromosome position | 31241519 |
Reported gene | EHD3 |
Mapped gene | EHD3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 30845 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs649729-A |
SNPs | rs649729 |
Merged | 0 |
SNP id current | 649729 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000004 |
Pvalue mlog | 5.39794000867203 |
P value text | |
Or beta | 0.07 |
%95 Ci | [NR] unit decrease |
Platform | Illumina [476395] |
CNV | N |
Mapped trait | mean platelet volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004584 |
Study accession | GCST002184 |