Human SNP ID | rs4812048 |
---|---|
Human chromosome | chr20 |
Human SNP position | 59012716 |
Pig chromosome | chr17 |
Pig SNP position | 66523534 |
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 | 20q13.32 |
Chromosome id | chr20 |
Chromosome position | 59012716 |
Reported gene | TUBB1, CTSZ |
Mapped gene | CTSZ - TUBB1 |
Upstream gene id | 1522 |
Downstream gene id | 81027 |
SNP gene ids | |
Upstream gene distance | 5462 |
Downstream gene distance | 6538 |
SNP risk allele | rs4812048-C |
SNPs | rs4812048 |
Merged | 0 |
SNP id current | 4812048 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000000001 |
Pvalue mlog | 9 |
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 | 20q13.32 |
Chromosome id | chr20 |
Chromosome position | 59012716 |
Reported gene | CTSZ |
Mapped gene | CTSZ - TUBB1 |
Upstream gene id | 1522 |
Downstream gene id | 81027 |
SNP gene ids | |
Upstream gene distance | 5462 |
Downstream gene distance | 6538 |
SNP risk allele | rs4812048-C |
SNPs | rs4812048 |
Merged | 0 |
SNP id current | 4812048 |
Context | intergenic_variant |
Intergenic | 1 |
Allele frequency | NR |
P value | 0.000007 |
Pvalue mlog | 5.15490195998574 |
P value text | |
Or beta | 0.09 |
%95 Ci | [NR] unit increase |
Platform | Illumina [476395] |
CNV | N |
Mapped trait | mean platelet volume |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004584 |
Study accession | GCST002184 |