Human SNP ID | rs2284746 |
---|---|
Human chromosome | chr1 |
Human SNP position | 16980180 |
Pig chromosome | chr6 |
Pig SNP position | 69928059 |
PubMed ID | 21946350 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/21946350 |
Study | Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. |
Disease/Trait | Pulmonary function |
Initial sample | 48,201 European ancestry individuals |
Replication sample | 46,411 European ancestry individuals |
Region | 1p36.13 |
Chromosome id | chr1 |
Chromosome position | 16980180 |
Reported gene | MFAP2 |
Mapped gene | MFAP2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4237 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2284746-G |
SNPs | rs2284746 |
Merged | 0 |
SNP id current | 2284746 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.52 |
P value | 0.0000000000000008 |
Pvalue mlog | 15.096910013008 |
P value text | (FEV1/FVC) |
Or beta | 0.04 |
%95 Ci | [0.030-0.050] unit decrease |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | pulmonary function measurement, FEV/FEC ratio |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0003892, http://www.ebi.ac.uk/efo/EFO_0004713 |
Study accession | GCST001248 |
PubMed ID | 20881960 |
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/20881960 |
Study | Hundreds of variants clustered in genomic loci and biological pathways affect human height. |
Disease/Trait | Height |
Initial sample | 133,653 European ancestry individuals |
Replication sample | 50,074 European ancestry individuals |
Region | 1p36.13 |
Chromosome id | chr1 |
Chromosome position | 16980180 |
Reported gene | MFAP2 |
Mapped gene | MFAP2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4237 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2284746-C |
SNPs | rs2284746 |
Merged | 0 |
SNP id current | 2284746 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.48 |
P value | 4E-29 |
Pvalue mlog | 28.397940008672 |
P value text | |
Or beta | 0.04 |
%95 Ci | [NR] unit decrease |
Platform | Affymetrix, Illumina [2834208] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000817 |
PubMed ID | 23284291 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23284291 |
Study | Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. |
Disease/Trait | Pulmonary function (interaction) |
Initial sample | 50,047 European ancestry individuals |
Replication sample | NA |
Region | 1p36.13 |
Chromosome id | chr1 |
Chromosome position | 16980180 |
Reported gene | MFAP2 |
Mapped gene | MFAP2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4237 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2284746-? |
SNPs | rs2284746 |
Merged | 0 |
SNP id current | 2284746 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.00000000002 |
Pvalue mlog | 10.698970004336 |
P value text | (FEV1/FVC, Pack-years) |
Or beta | |
%95 Ci | |
Platform | NR [~ 2500000] (imputed) |
CNV | N |
Mapped trait | FEV/FEC ratio |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004713 |
Study accession | GCST001784 |
PubMed ID | 23563607 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23563607 |
Study | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. |
Disease/Trait | Height |
Initial sample | 8,097 European ancestry tall individuals, 8,099 European ancestry short individuals |
Replication sample | 4,872 European ancestry tall individuals, 4,831 European ancestry short individuals |
Region | 1p36.13 |
Chromosome id | chr1 |
Chromosome position | 16980180 |
Reported gene | MFAP2 |
Mapped gene | MFAP2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4237 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2284746-G |
SNPs | rs2284746 |
Merged | 0 |
SNP id current | 2284746 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.52 |
P value | 0.000000000000005 |
Pvalue mlog | 14.3010299956639 |
P value text | |
Or beta | 1.17 |
%95 Ci | [NR] |
Platform | Affymetrix, Illumina [~ 2800000] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST001956 |
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 | 1p36.13 |
Chromosome id | chr1 |
Chromosome position | 16980180 |
Reported gene | MFAP2 |
Mapped gene | MFAP2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4237 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2284746-C |
SNPs | rs2284746 |
Merged | 0 |
SNP id current | 2284746 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.72 |
P value | 2E-25 |
Pvalue mlog | 24.698970004336 |
P value text | |
Or beta | 0.06 |
%95 Ci | [0.046-0.074] 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 | 1p36.13 |
Chromosome id | chr1 |
Chromosome position | 16980180 |
Reported gene | MFAP2 |
Mapped gene | MFAP2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 4237 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2284746-C |
SNPs | rs2284746 |
Merged | 0 |
SNP id current | 2284746 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.475 |
P value | 1E-40 |
Pvalue mlog | 40 |
P value text | |
Or beta | 0.04 |
%95 Ci | [0.034-0.046] 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 |