Human SNP ID | rs754388 |
---|---|
Human chromosome | chr14 |
Human SNP position | 92649065 |
Pig chromosome | chr7 |
Pig SNP position | 120740666 |
PubMed ID | 24945404 |
---|---|
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24945404 |
Study | Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. |
Disease/Trait | Bone mineral density (paediatric, total body less head) |
Initial sample | 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children |
Replication sample | NA |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.82 |
P value | 0.000000003 |
Pvalue mlog | 8.52287874528033 |
P value text | |
Or beta | 0.12 |
%95 Ci | [0.081-0.159] unit increase |
Platform | Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | bone density |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003923 |
Study accession | GCST002494 |
PubMed ID | 24945404 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24945404 |
Study | Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. |
Disease/Trait | Bone mineral density (paediatric, total body less head) |
Initial sample | 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children |
Replication sample | NA |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000005 |
Pvalue mlog | 7.30102999566398 |
P value text | (EA) |
Or beta | 0.1219 |
%95 Ci | [0.078-0.166] unit increase |
Platform | Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | bone density |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003923 |
Study accession | GCST002494 |
PubMed ID | 24945404 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24945404 |
Study | Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. |
Disease/Trait | Bone mineral density (paediatric, lower limb) |
Initial sample | 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children |
Replication sample | NA |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.82 |
P value | 0.0000000001 |
Pvalue mlog | 10 |
P value text | |
Or beta | 0.13 |
%95 Ci | [0.091-0.169] unit increase |
Platform | Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | bone density |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003923 |
Study accession | GCST002492 |
PubMed ID | 24945404 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24945404 |
Study | Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. |
Disease/Trait | Bone mineral density (paediatric, lower limb) |
Initial sample | 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children |
Replication sample | NA |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | (EA) |
Or beta | 0.1351 |
%95 Ci | [0.091-0.179] unit increase |
Platform | Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | bone density |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003923 |
Study accession | GCST002492 |
PubMed ID | 25006744 |
Journal | Am J Respir Crit Care Med |
Link | www.ncbi.nlm.nih.gov/pubmed/25006744 |
Study | Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. |
Disease/Trait | Local histogram emphysema pattern |
Initial sample | 3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases |
Replication sample | NA |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | |
P value | 0.0000002 |
Pvalue mlog | 6.69897000433601 |
P value text | (Moderate Centrilobular) |
Or beta | |
%95 Ci | |
Platform | Illumina [6942916] (imputed) |
CNV | N |
Mapped trait | emphysema pattern measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005850 |
Study accession | GCST002525 |
PubMed ID | 25006744 |
Journal | Am J Respir Crit Care Med |
Link | www.ncbi.nlm.nih.gov/pubmed/25006744 |
Study | Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. |
Disease/Trait | Local histogram emphysema pattern |
Initial sample | 3,732 European ancestry smoker individuals, 2,724 European ancestry chronic obstructive pulmonary disease smoker cases, 2,372 African American smoker individuals, 786 African American chronic obstructive pulmonary disease smoker cases |
Replication sample | NA |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | |
P value | 0.0000003 |
Pvalue mlog | 6.52287874528033 |
P value text | (Severe Centrilobular) |
Or beta | |
%95 Ci | |
Platform | Illumina [6942916] (imputed) |
CNV | N |
Mapped trait | emphysema pattern measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005850 |
Study accession | GCST002525 |
PubMed ID | 24621683 |
Journal | Lancet Respir Med |
Link | www.ncbi.nlm.nih.gov/pubmed/24621683 |
Study | Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. |
Disease/Trait | Chronic obstructive pulmonary disease (severe) |
Initial sample | 3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls |
Replication sample | 2,651 cases and their relatives |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.83 |
P value | 0.00000007 |
Pvalue mlog | 7.15490195998574 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Illumina [up to 701491] (imputed) |
CNV | N |
Mapped trait | chronic obstructive pulmonary disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000341 |
Study accession | GCST002350 |
PubMed ID | 24621683 |
Journal | Lancet Respir Med |
Link | www.ncbi.nlm.nih.gov/pubmed/24621683 |
Study | Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. |
Disease/Trait | Chronic obstructive pulmonary disease (moderate to severe) |
Initial sample | 5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls |
Replication sample | 2,651 cases and their relatives |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.83 |
P value | 0.000000005 |
Pvalue mlog | 8.30102999566398 |
P value text | |
Or beta | |
%95 Ci | |
Platform | Illumina [up to 701491] (imputed) |
CNV | N |
Mapped trait | chronic obstructive pulmonary disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000341 |
Study accession | GCST002351 |
PubMed ID | 25101718 |
Journal | Am J Respir Cell Mol Biol |
Link | www.ncbi.nlm.nih.gov/pubmed/25101718 |
Study | IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease. |
Disease/Trait | Chronic obstructive pulmonary disease |
Initial sample | 3,281 European ancestry cases, 494 African American cases, 2,712 European ancestry smoker controls, 1,749 African American smoker controls |
Replication sample | NA |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000001 |
Pvalue mlog | 6 |
P value text | |
Or beta | 1.29 |
%95 Ci | [NR] |
Platform | Illumina [NR] (imputed) |
CNV | N |
Mapped trait | chronic obstructive pulmonary disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000341 |
Study accession | GCST002795 |
PubMed ID | 26634245 |
Journal | BMC Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/26634245 |
Study | A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. |
Disease/Trait | Post bronchodilator FEV1/FVC ratio |
Initial sample | 10,094 European ancestry current and former smoker individuals, 3,260 African American current and former smoker individuals, 178 current and former smoker individuals |
Replication sample | NA |
Region | 14q32.12 |
Chromosome id | chr14 |
Chromosome position | 92649065 |
Reported gene | RIN3 |
Mapped gene | RIN3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 79890 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs754388-C |
SNPs | rs754388 |
Merged | 0 |
SNP id current | 754388 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.829 |
P value | 0.000000006 |
Pvalue mlog | 8.22184874961635 |
P value text | |
Or beta | 0.014 |
%95 Ci | unit decrease |
Platform | Illumina [NR] (imputed) |
CNV | N |
Mapped trait | response to bronchodilator, FEV/FEC ratio |
Mapped trait URI | http://purl.obolibrary.org/obo/GO_0097366, http://www.ebi.ac.uk/efo/EFO_0004713 |
Study accession | GCST003264 |