Human SNP ID | rs7466269 |
---|---|
Human chromosome | chr9 |
Human SNP position | 130588697 |
Pig chromosome | chr1 |
Pig SNP position | 304581721 |
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 | 9q34.11 |
Chromosome id | chr9 |
Chromosome position | 130588697 |
Reported gene | FUBP3 |
Mapped gene | FUBP3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8939 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7466269-A |
SNPs | rs7466269 |
Merged | 0 |
SNP id current | 7466269 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.64 |
P value | 0.00000000000000003 |
Pvalue mlog | 16.5228787452803 |
P value text | |
Or beta | 0.032 |
%95 Ci | [NR] unit increase |
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 | 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 | 9q34.11 |
Chromosome id | chr9 |
Chromosome position | 130588697 |
Reported gene | FUBP3 |
Mapped gene | FUBP3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8939 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7466269-A |
SNPs | rs7466269 |
Merged | 0 |
SNP id current | 7466269 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.65 |
P value | 0.00000003 |
Pvalue mlog | 7.52287874528033 |
P value text | |
Or beta | 0.084 |
%95 Ci | [0.055-0.113] 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 | 9q34.11 |
Chromosome id | chr9 |
Chromosome position | 130588697 |
Reported gene | FUBP3 |
Mapped gene | FUBP3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8939 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7466269-A |
SNPs | rs7466269 |
Merged | 0 |
SNP id current | 7466269 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.65 |
P value | 0.00000002 |
Pvalue mlog | 7.69897000433601 |
P value text | |
Or beta | 0.087 |
%95 Ci | [0.058-0.116] 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 | 9q34.11 |
Chromosome id | chr9 |
Chromosome position | 130588697 |
Reported gene | FUBP3 |
Mapped gene | FUBP3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8939 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7466269-A |
SNPs | rs7466269 |
Merged | 0 |
SNP id current | 7466269 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000005 |
Pvalue mlog | 5.30102999566398 |
P value text | (EA) |
Or beta | 0.0793 |
%95 Ci | [0.045-0.113] 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 | 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 | 9q34.11 |
Chromosome id | chr9 |
Chromosome position | 130588697 |
Reported gene | FUBP3 |
Mapped gene | FUBP3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8939 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7466269-A |
SNPs | rs7466269 |
Merged | 0 |
SNP id current | 7466269 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.64 |
P value | 0.0000000002 |
Pvalue mlog | 9.69897000433601 |
P value text | |
Or beta | 1.14 |
%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 | 18391950 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18391950 |
Study | Identification of ten loci associated with height highlights new biological pathways in human growth. |
Disease/Trait | Height |
Initial sample | 15,821 European ancestry individuals |
Replication sample | Up to 17,801 European ancestry individuals |
Region | 9q34.11 |
Chromosome id | chr9 |
Chromosome position | 130588697 |
Reported gene | FUBP3 |
Mapped gene | FUBP3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8939 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7466269-G |
SNPs | rs7466269 |
Merged | 0 |
SNP id current | 7466269 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.33 |
P value | 0.0000008 |
Pvalue mlog | 6.09691001300805 |
P value text | |
Or beta | 0.27 |
%95 Ci | [0.38-0.69] cm decrease |
Platform | Affymetrix, Illumina [2260683] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000176 |
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 | 9q34.11 |
Chromosome id | chr9 |
Chromosome position | 130588697 |
Reported gene | FUBP3 |
Mapped gene | FUBP3 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8939 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs7466269-A |
SNPs | rs7466269 |
Merged | 0 |
SNP id current | 7466269 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.644 |
P value | 1E-27 |
Pvalue mlog | 27 |
P value text | |
Or beta | 0.033 |
%95 Ci | [0.027-0.039] unit increase |
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 |