Human SNP ID | rs3811444 |
---|---|
Human chromosome | chr1 |
Human SNP position | 247876149 |
Pig chromosome | chr2 |
Pig SNP position | 56454491 |
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 | 1q44 |
Chromosome id | chr1 |
Chromosome position | 247876149 |
Reported gene | TRIM58 |
Mapped gene | TRIM58 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 25893 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3811444-C |
SNPs | rs3811444 |
Merged | 0 |
SNP id current | 3811444 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000000006 |
Pvalue mlog | 8.22184874961635 |
P value text | |
Or beta | 3.346 |
%95 Ci | [2.22-4.47] 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 | 23222517 |
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/23222517 |
Study | Seventy-five genetic loci influencing the human red blood cell. |
Disease/Trait | Red blood cell traits |
Initial sample | 62,553 European ancestry individuals, 9,308 South Asian ancestry individuals |
Replication sample | 63,506 European ancestry individuals |
Region | 1q44 |
Chromosome id | chr1 |
Chromosome position | 247876149 |
Reported gene | TRIM58 |
Mapped gene | TRIM58 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 25893 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3811444-T |
SNPs | rs3811444 |
Merged | 0 |
SNP id current | 3811444 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.35 |
P value | 0.0000000005 |
Pvalue mlog | 9.30102999566398 |
P value text | (EA, RBCC) |
Or beta | 0.018 |
%95 Ci | [0.012-0.024] unit increase |
Platform | Affymetrix, Illumina, Perlegen [2711806] (imputed) |
CNV | N |
Mapped trait | erythrocyte count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004305 |
Study accession | GCST001765 |
PubMed ID | 25500335 |
Journal | Prostaglandins Leukot Essent Fatty Acids |
Link | www.ncbi.nlm.nih.gov/pubmed/25500335 |
Study | A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study. |
Disease/Trait | Red blood cell fatty acid levels |
Initial sample | 2,633 individuals |
Replication sample | NA |
Region | 1q44 |
Chromosome id | chr1 |
Chromosome position | 247876149 |
Reported gene | TRIM58 |
Mapped gene | TRIM58 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 25893 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3811444-T |
SNPs | rs3811444 |
Merged | 0 |
SNP id current | 3811444 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.32 |
P value | 0.00000000005 |
Pvalue mlog | 10.3010299956639 |
P value text | (OA) |
Or beta | 0.127 |
%95 Ci | [NR] unit decrease |
Platform | Affymetrix [~ 2500000] (imputed) |
CNV | N |
Mapped trait | fatty acid measurement, oleic acid measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005110, http://www.ebi.ac.uk/efo/EFO_0006810 |
Study accession | GCST002712 |