From SNPedia
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
| ? | (C;C) (C;T) (T;T) |
 |
| 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
|
Related to STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9
according to
omim 611547. See
also
[PMID 19842074] Insights into the Regulation of a Common Variant of HMGA2 Associated with Human Height During Embryonic Development
| PharmGKB | PA162356689 |
| Name | |
| Annotation | GWAS Results: A common variant of HMGA2 is associated with adult and childhood height in the general population (Initial Sample Size: 4,921 individuals; Replication Sample Size: 29,098 individuals (19,064 adults)). |
| Gene | HMGA2 |
| Featue | |
| Evidence | PubMed ID:17767157; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | |
| Curation Level | Non-Curated |
[PMID 20058197] Insights into the regulation of a common variant of HMGA2 associated with human height during embryonic development