Human SNP ID | rs8756 |
---|---|
Human chromosome | chr12 |
Human SNP position | 65965972 |
Pig chromosome | chr5 |
Pig SNP position | 33519100 |
PubMed ID | 19343178 |
---|---|
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19343178 |
Study | Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. |
Disease/Trait | Height |
Initial sample | 12,611 European ancestry individuals |
Replication sample | 7,187 European ancestry individuals |
Region | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65965972 |
Reported gene | HMGA2 |
Mapped gene | HMGA2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8091 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs8756-? |
SNPs | rs8756 |
Merged | 0 |
SNP id current | 8756 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.17 |
P value | 0.00000000000005 |
Pvalue mlog | 13.3010299956639 |
P value text | |
Or beta | 0.08 |
%95 Ci | [0.06-0.10] s.d. decrease |
Platform | Illumina [229216] |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000372 |
PubMed ID | 20397748 |
Journal | Twin Res Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20397748 |
Study | Genome-wide association study of height and body mass index in Australian twin families. |
Disease/Trait | Height |
Initial sample | 11,536 European ancestry individuals |
Replication sample | NA |
Region | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65965972 |
Reported gene | HMGA2 |
Mapped gene | HMGA2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8091 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs8756-A |
SNPs | rs8756 |
Merged | 0 |
SNP id current | 8756 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.51 |
P value | 0.0000004 |
Pvalue mlog | 6.39794000867203 |
P value text | |
Or beta | 0.07 |
%95 Ci | [0.03-0.11] SD decrease |
Platform | Illumina [559712] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000644 |
PubMed ID | 18391951 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18391951 |
Study | Many sequence variants affecting diversity of adult human height. |
Disease/Trait | Height |
Initial sample | 30,968 European ancestry individuals |
Replication sample | 8,541 European ancestry individuals |
Region | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65965972 |
Reported gene | HMGA2 |
Mapped gene | HMGA2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8091 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs8756-C |
SNPs | rs8756 |
Merged | 0 |
SNP id current | 8756 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.52 |
P value | 0.0000000000000002 |
Pvalue mlog | 15.698970004336 |
P value text | |
Or beta | 6.6 |
%95 Ci | [5.03-8.17] % s.d. increase |
Platform | Affymetrix, Illumina [up to 304226] |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000175 |
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 | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65965972 |
Reported gene | HMGA2 |
Mapped gene | HMGA2 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 8091 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs8756-A |
SNPs | rs8756 |
Merged | 0 |
SNP id current | 8756 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.508 |
P value | 5E-90 |
Pvalue mlog | 89.3010299956639 |
P value text | |
Or beta | 0.059 |
%95 Ci | [0.053-0.065] 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 |