Human SNP ID | rs7961894 |
---|---|
Human chromosome | chr12 |
Human SNP position | 121927677 |
Pig chromosome | chr14 |
Pig SNP position | 32592322 |
PubMed ID | 19110211 |
---|---|
Journal | Am J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19110211 |
Study | A genome-wide association study identifies three loci associated with mean platelet volume. |
Disease/Trait | Mean platelet volume |
Initial sample | 1,606 European ancestry individuals |
Replication sample | 8,617 European ancestry individuals |
Region | 12q24.31 |
Chromosome id | chr12 |
Chromosome position | 121927677 |
Reported gene | WDR66 |
Mapped gene | WDR66 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144406 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7961894-A |
SNPs | rs7961894 |
Merged | 0 |
SNP id current | 7961894 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.11 |
P value | 7E-48 |
Pvalue mlog | 47.1549019599857 |
P value text | |
Or beta | 0.03 |
%95 Ci | [0.03-0.04] per log fl increase |
Platform | Affymetrix [335152] |
CNV | N |
Mapped trait | mean platelet volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004584 |
Study accession | GCST000305 |
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 | Mean platelet volume |
Initial sample | 4,627 European ancestry individuals |
Replication sample | 9,316 European ancestry individuals |
Region | 12q24.31 |
Chromosome id | chr12 |
Chromosome position | 121927677 |
Reported gene | WDR66 |
Mapped gene | WDR66 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144406 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7961894-T |
SNPs | rs7961894 |
Merged | 0 |
SNP id current | 7961894 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 3E-44 |
Pvalue mlog | 43.5228787452803 |
P value text | |
Or beta | 0.03 |
%95 Ci | [0.027-0.035] fl increase |
Platform | Affymetrix, Illumina [~ 2110000] (imputed) |
CNV | N |
Mapped trait | mean platelet volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004584 |
Study accession | GCST000497 |
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 | 12q24.31 |
Chromosome id | chr12 |
Chromosome position | 121927677 |
Reported gene | WDR66 |
Mapped gene | WDR66 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144406 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7961894-T |
SNPs | rs7961894 |
Merged | 0 |
SNP id current | 7961894 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 1E-103 |
Pvalue mlog | 103 |
P value text | |
Or beta | 0.03 |
%95 Ci | [0.028-0.032] 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 | 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 | 12q24.31 |
Chromosome id | chr12 |
Chromosome position | 121927677 |
Reported gene | WDR66 |
Mapped gene | WDR66 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144406 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7961894-C |
SNPs | rs7961894 |
Merged | 0 |
SNP id current | 7961894 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.0000000001 |
Pvalue mlog | 10 |
P value text | |
Or beta | 3.923 |
%95 Ci | [2.73-5.12] 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 |
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 | 12q24.31 |
Chromosome id | chr12 |
Chromosome position | 121927677 |
Reported gene | TMEM120B, SETD1B, PSMD9, BCL7A, WDR66 |
Mapped gene | WDR66 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 144406 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7961894-T |
SNPs | rs7961894 |
Merged | 0 |
SNP id current | 7961894 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.89 |
P value | 6E-38 |
Pvalue mlog | 37.2218487496163 |
P value text | |
Or beta | 0.31 |
%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 |