Human SNP ID | rs3791675 |
---|---|
Human chromosome | chr2 |
Human SNP position | 55884174 |
Pig chromosome | chr3 |
Pig SNP position | 90176613 |
PubMed ID | 19396169 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19396169 |
Study | A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. |
Disease/Trait | Height |
Initial sample | 8,842 Korean ancestry individuals |
Replication sample | 7,861 Korean ancestry individuals |
Region | 2p16.1 |
Chromosome id | chr2 |
Chromosome position | 55884174 |
Reported gene | EFEMP1 |
Mapped gene | EFEMP1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 2202 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3791675-G |
SNPs | rs3791675 |
Merged | 0 |
SNP id current | 3791675 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.22 |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | |
Or beta | 0.42 |
%95 Ci | [0.28-0.56] cm increase |
Platform | Affymetrix [2156535] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000380 |
PubMed ID | 19893584 |
Journal | J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19893584 |
Study | Identification of 15 loci influencing height in a Korean population. |
Disease/Trait | Height |
Initial sample | 8,842 Korean ancestry individuals |
Replication sample | NA |
Region | 2p16.1 |
Chromosome id | chr2 |
Chromosome position | 55884174 |
Reported gene | EFEMP1 |
Mapped gene | EFEMP1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 2202 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3791675-G |
SNPs | rs3791675 |
Merged | 0 |
SNP id current | 3791675 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.23 |
P value | 0.000004 |
Pvalue mlog | 5.39794000867203 |
P value text | |
Or beta | 0.45 |
%95 Ci | [NR] cm increase |
Platform | Affymetrix [334546] |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000522 |
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 | 2p16.1 |
Chromosome id | chr2 |
Chromosome position | 55884174 |
Reported gene | EFEMP1 |
Mapped gene | EFEMP1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 2202 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3791675-C |
SNPs | rs3791675 |
Merged | 0 |
SNP id current | 3791675 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.77 |
P value | 0.0000003 |
Pvalue mlog | 6.52287874528033 |
P value text | |
Or beta | 0.09 |
%95 Ci | [0.04-0.14] SD increase |
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 | 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 | 2p16.1 |
Chromosome id | chr2 |
Chromosome position | 55884174 |
Reported gene | EFEMP1 |
Mapped gene | EFEMP1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 2202 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3791675-T |
SNPs | rs3791675 |
Merged | 0 |
SNP id current | 3791675 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.23 |
P value | 3E-35 |
Pvalue mlog | 34.5228787452803 |
P value text | |
Or beta | 0.053 |
%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 | 18391952 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18391952 |
Study | Genome-wide association analysis identifies 20 loci that influence adult height. |
Disease/Trait | Height |
Initial sample | 13,665 European ancestry individuals |
Replication sample | 16,482 European ancestry individuals |
Region | 2p16.1 |
Chromosome id | chr2 |
Chromosome position | 55884174 |
Reported gene | EFEMP1 |
Mapped gene | EFEMP1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 2202 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3791675-C |
SNPs | rs3791675 |
Merged | 0 |
SNP id current | 3791675 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.77 |
P value | 0.000000000002 |
Pvalue mlog | 11.698970004336 |
P value text | |
Or beta | 0.09 |
%95 Ci | [0.05-0.12] s.d. increase (males) |
Platform | Affymetrix [402951] |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000174 |
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 | 2p16.1 |
Chromosome id | chr2 |
Chromosome position | 55884174 |
Reported gene | EFEMP1 |
Mapped gene | EFEMP1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 2202 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs3791675-T |
SNPs | rs3791675 |
Merged | 0 |
SNP id current | 3791675 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.77 |
P value | 1E-38 |
Pvalue mlog | 38 |
P value text | |
Or beta | 0.065 |
%95 Ci | [0.051-0.079] 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 |