rs1042725
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1.5 | ~0.8cm taller |
| (C;T) | 1.5 | ~0.4cm taller |
| (T;T) | Average height |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 65964567 |
| Gene | HMGA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042725 |
| dbSNP (classic) | rs1042725 |
| ClinGen | rs1042725 |
| ebi | rs1042725 |
| HLI | rs1042725 |
| Exac | rs1042725 |
| Gnomad | rs1042725 |
| Varsome | rs1042725 |
| LitVar | rs1042725 |
| Map | rs1042725 |
| PheGenI | rs1042725 |
| Biobank | rs1042725 |
| 1000 genomes | rs1042725 |
| hgdp | rs1042725 |
| ensembl | rs1042725 |
| geneview | rs1042725 |
| scholar | rs1042725 |
| rs1042725 | |
| pharmgkb | rs1042725 |
| gwascentral | rs1042725 |
| openSNP | rs1042725 |
| 23andMe | rs1042725 |
| SNPshot | rs1042725 |
| SNPdbe | rs1042725 |
| MSV3d | rs1042725 |
| GWAS Ctlg | rs1042725 |
| GMAF | 0.4325 |
| Max Magnitude | 1.5 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
nature SNP rs1042725 is associated with height (P = 4E-8) in a study involving over 20,000 individuals. The gene harboring this SNP, HMGA2, is a strong biological candidate for having an influence on height, since rare, severe mutations in this gene are known to alter body size in mice and humans.
rs1042725 is estimated to explain approx 0.3% of population variation in height in both adults and children (approx 0.4 cm increased adult height per C allele).
[PMID 19139030] rs1042725 is associated with increased height (0.36 cm 95% IC[0.12-0.61] per C allele, P=0.004). in men rs1042725 may explain 3% of height variability
| GWAS | |
|---|---|
| SNP | rs1042725 |
| PubMedID | [PMID 17767157 ]
|
| Condition | Height |
| Gene | HMGA2 |
| Risk Allele | C |
| pValue | 6.00E-016 |
| OR | 0.4 |
| 95% CI | NR) cm per copy in adult heigh |
| GWAS snp | |
|---|---|
| PMID | [PMID 18391950]
|
| Trait | Height |
| Title | Identification of ten loci associated with height highlights new biological pathways in human growth |
| Risk Allele | T |
| P-val | 3.0000000000000003E-20 |
| Odds Ratio | 0.48 [0.58-1.09] cm shorter |
| GWAS snp | |
|---|---|
| PMID | [PMID 18391952]
|
| Trait | Height |
| Title | Genome-wide association analysis identifies 20 loci that influence adult height |
| Risk Allele | C |
| P-val | 2.9999999999999998E-18 |
| Odds Ratio | 0.05 [0.03-0.08] SD taller - among males |
[PMID 19842074] Insights into the Regulation of a Common Variant of HMGA2 Associated with Human Height During Embryonic Development
[PMID 20058197] Insights into the regulation of a common variant of HMGA2 associated with human height during embryonic development
| GWAS snp | |
|---|---|
| PMID | [PMID 22504419]
|
| Trait | |
| Title | Common variants at 12q15 and 12q24 are associated with infant head circumference. |
| Risk Allele | T |
| P-val | 3E-10 |
| Odds Ratio | 0.0650 None |
[PMID 18193045] Common variants in the GDF5-UQCC region are associated with variation in human height.
[PMID 18350145] Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts.
[PMID 19030899] Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.
[PMID 19039035] Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.
[PMID 19132395] Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele.
[PMID 19197348] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
[PMID 19343178] Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
[PMID 19376282] Association of a high mobility group gene (HMGA2) variant with bone mineral density.
[PMID 19458495] Comprehensive analysis of the impact of SNPs and CNVs on human microRNAs and their regulatory genes.
[PMID 19557161] Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
[PMID 19930247] HMGA2 is confirmed to be associated with human adult height.
[PMID 20017971] Assessing the impact of global versus local ancestry in association studies.
[PMID 20195514] Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
| GWAS snp | |
|---|---|
| PMID | [PMID 23202124]
|
| Trait | Birth weight |
| Title | New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. |
| Risk Allele | T |
| P-val | 1E-19 |
| Odds Ratio | .05 [0.037-0.057] gram decrease |
