Human SNP ID | rs4369779 |
---|---|
Human chromosome | chr18 |
Human SNP position | 23155444 |
Pig chromosome | chr6 |
Pig SNP position | 100650691 |
PubMed ID | 20189936 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20189936 |
Study | A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. |
Disease/Trait | Height |
Initial sample | 19,633 Japanese ancestry individuals |
Replication sample | NA |
Region | 18q11.2 |
Chromosome id | chr18 |
Chromosome position | 23155444 |
Reported gene | CABLES1 |
Mapped gene | CABLES1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 91768 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4369779-T |
SNPs | rs4369779 |
Merged | 0 |
SNP id current | 4369779 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.2 |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | |
Or beta | 0.06 |
%95 Ci | [0.04-0.08] cm decrease |
Platform | Illumina [420885] |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000611 |
PubMed ID | 25865494 |
Journal | Am J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25865494 |
Study | Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development. |
Disease/Trait | Sitting height ratio |
Initial sample | 3,545 African Americans individuals, 12,965 European ancestry women, 8,625 European ancestry men |
Replication sample | NA |
Region | 18q11.2 |
Chromosome id | chr18 |
Chromosome position | 23155444 |
Reported gene | CABLES1 |
Mapped gene | CABLES1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 91768 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4369779-C |
SNPs | rs4369779 |
Merged | 0 |
SNP id current | 4369779 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.79 |
P value | 0.0000007 |
Pvalue mlog | 6.15490195998574 |
P value text | |
Or beta | 0.06 |
%95 Ci | [0.036-0.084] unit decrease |
Platform | Affymetrix, Illumina [up to 10250422] (imputed) |
CNV | N |
Mapped trait | sitting height ratio |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007118 |
Study accession | GCST002843 |
PubMed ID | 25429064 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25429064 |
Study | Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. |
Disease/Trait | Height |
Initial sample | 36,227 East Asian ancestry individuals |
Replication sample | 57,699 East Asian ancestry individuals |
Region | 18q11.2 |
Chromosome id | chr18 |
Chromosome position | 23155444 |
Reported gene | CABLES1 |
Mapped gene | CABLES1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 91768 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4369779-T |
SNPs | rs4369779 |
Merged | 0 |
SNP id current | 4369779 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.17 |
P value | 5E-24 |
Pvalue mlog | 23.3010299956639 |
P value text | |
Or beta | 0.53 |
%95 Ci | [0.52-0.54] unit decrease |
Platform | Affymetrix, Illumina [2704730] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST002702 |
PubMed ID | 25282103 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25282103 |
Study | Defining the role of common variation in the genomic and biological architecture of adult human height. |
Disease/Trait | Height |
Initial sample | 253,288 European ancestry individuals |
Replication sample | 80,067 European ancestry individuals |
Region | 18q11.2 |
Chromosome id | chr18 |
Chromosome position | 23155444 |
Reported gene | CABLES1 |
Mapped gene | CABLES1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 91768 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4369779-T |
SNPs | rs4369779 |
Merged | 0 |
SNP id current | 4369779 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.207 |
P value | 2E-53 |
Pvalue mlog | 52.698970004336 |
P value text | |
Or beta | 0.056 |
%95 Ci | [0.048-0.064] unit decrease |
Platform | Affymetrix, Illumina, Perlegen [2550858] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST002647 |