Human SNP ID | rs1042725 |
---|---|
Human chromosome | chr12 |
Human SNP position | 65964567 |
Pig chromosome | chr5 |
Pig SNP position | 33517696 |
PubMed ID | 17767157 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/17767157 |
Study | A common variant of HMGA2 is associated with adult and childhood height in the general population. |
Disease/Trait | Height |
Initial sample | 4,921 European ancestry individuals |
Replication sample | 19,064 European ancestry adult individuals, 6,827 European ancestry children |
Region | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65964567 |
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 | rs1042725-C |
SNPs | rs1042725 |
Merged | 0 |
SNP id current | 1042725 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.51 |
P value | 0.0000000000000006 |
Pvalue mlog | 15.2218487496163 |
P value text | |
Or beta | 0.4 |
%95 Ci | [NR] cm increase |
Platform | Affymetrix [364301] |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000068 |
PubMed ID | 22504419 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/22504419 |
Study | Common variants at 12q15 and 12q24 are associated with infant head circumference. |
Disease/Trait | Head circumference (infant) |
Initial sample | 10,768 European ancestry infants |
Replication sample | 8,321 European ancestry infants |
Region | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65964567 |
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 | rs1042725-T |
SNPs | rs1042725 |
Merged | 0 |
SNP id current | 1042725 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.49 |
P value | 0.0000000003 |
Pvalue mlog | 9.52287874528033 |
P value text | |
Or beta | 0.065 |
%95 Ci | [0.045-0.085] SD decrease |
Platform | Affymetrix, Illumina [~ 2400000] (imputed) |
CNV | N |
Mapped trait | infant head circumference |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004577 |
Study accession | GCST001484 |
PubMed ID | 23202124 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23202124 |
Study | New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. |
Disease/Trait | Birth weight |
Initial sample | Up to 26,836 European ancestry individuals |
Replication sample | Up to 42,519 European ancestry individuals |
Region | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65964567 |
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 | rs1042725-T |
SNPs | rs1042725 |
Merged | 0 |
SNP id current | 1042725 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.5 |
P value | 1E-19 |
Pvalue mlog | 19 |
P value text | |
Or beta | 0.047 |
%95 Ci | [0.037-0.057] gram decrease |
Platform | Affymetrix, Illumina [~ 2700000] (imputed) |
CNV | N |
Mapped trait | birth weight |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004344 |
Study accession | GCST001758 |
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 | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65964567 |
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 | rs1042725-T |
SNPs | rs1042725 |
Merged | 0 |
SNP id current | 1042725 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.49 |
P value | 3E-20 |
Pvalue mlog | 19.5228787452803 |
P value text | |
Or beta | 0.48 |
%95 Ci | [0.58-1.09] 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 | 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 | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65964567 |
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 | rs1042725-C |
SNPs | rs1042725 |
Merged | 0 |
SNP id current | 1042725 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.49 |
P value | 0.000000000000000003 |
Pvalue mlog | 17.5228787452803 |
P value text | |
Or beta | 0.05 |
%95 Ci | [0.03-0.08] 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 | 12q14.3 |
Chromosome id | chr12 |
Chromosome position | 65964567 |
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 | rs1042725-T |
SNPs | rs1042725 |
Merged | 0 |
SNP id current | 1042725 |
Context | 3_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.73 |
P value | 0.0000002 |
Pvalue mlog | 6.69897000433601 |
P value text | |
Or beta | 0.024 |
%95 Ci | [0.01-0.038] 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 |