Human SNP ID | rs6141 |
---|---|
Human chromosome | chr3 |
Human SNP position | 184372478 |
Pig chromosome | chr13 |
Pig SNP position | 131750850 |
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 | 3q27.1 |
Chromosome id | chr3 |
Chromosome position | 184372478 |
Reported gene | THPO |
Mapped gene | THPO |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 7066 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs6141-T |
SNPs | rs6141 |
Merged | 0 |
SNP id current | 6141 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000006 |
Pvalue mlog | 7.22184874961635 |
P value text | |
Or beta | 2.467 |
%95 Ci | [1.57-3.36] 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 | 20139978 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20139978 |
Study | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
Disease/Trait | Platelet count |
Initial sample | 14,806 Japanese ancestry individuals |
Replication sample | NA |
Region | 3q27.1 |
Chromosome id | chr3 |
Chromosome position | 184372478 |
Reported gene | THPO, CHRD |
Mapped gene | THPO |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 7066 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs6141-T |
SNPs | rs6141 |
Merged | 0 |
SNP id current | 6141 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.45 |
P value | 0.00000000005 |
Pvalue mlog | 10.3010299956639 |
P value text | |
Or beta | 0.076 |
%95 Ci | [0.052-0.100] unit increase |
Platform | Illumina [561583] |
CNV | N |
Mapped trait | platelet count |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004309 |
Study accession | GCST000580 |
PubMed ID | 25918132 |
Journal | Toxicol Sci |
Link | www.ncbi.nlm.nih.gov/pubmed/25918132 |
Study | Genome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma. |
Disease/Trait | Diisocyanate-induced asthma |
Initial sample | 74 European ancestry cases, 824 European ancestry controls |
Replication sample | NA |
Region | 3q27.1 |
Chromosome id | chr3 |
Chromosome position | 184372478 |
Reported gene | THPO, POLR2H, CHRD |
Mapped gene | THPO |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 7066 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs6141-G |
SNPs | rs6141 |
Merged | 0 |
SNP id current | 6141 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.484 |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | |
Or beta | 0 |
%95 Ci | |
Platform | Illumina [1556551] |
CNV | N |
Mapped trait | response to diisocyanate, asthma |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006995, http://www.ebi.ac.uk/efo/EFO_0000270 |
Study accession | GCST002875 |