{{Rsnum
|rsid=1042725
|Gene=HMGA2
|Chromosome=12
|position=65964567
|Orientation=plus
|GMAF=0.4325
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HMGA2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 28.3 | 42.5 | 29.2
| HCB | 4.4 | 35.0 | 60.6
| JPT | 8.0 | 33.6 | 58.4
| YRI | 41.4 | 49.0 | 9.7
| ASW | 38.6 | 40.4 | 21.1
| CHB | 4.4 | 35.0 | 60.6
| CHD | 7.3 | 30.3 | 62.4
| GIH | 9.0 | 44.0 | 47.0
| LWK | 62.0 | 31.5 | 6.5
| MEX | 5.3 | 42.1 | 52.6
| MKK | 54.5 | 39.7 | 5.8
| TSI | 21.8 | 43.6 | 34.7
| HapMapRevision=28
}}[http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng2121.html 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 Summary
|SNP=rs1042725
|PubMedID=17767157
|Condition=Height
|Gene=HMGA2
|Risk Allele=C
|pValue=6.00E-016
|OR=0.4
|95CI=NR) cm per copy in adult heigh
|OA=1
}}

{{PMID Auto GWAS
|PMID=18391950
|Trait=Height
|Title=Identification of ten loci associated with height highlights new biological pathways in human growth
|RiskAllele=T
|Pval=3.0000000000000003E-20
|OR=0.48
|ORtxt=[0.58-1.09] cm shorter
|OA=1
}}
{{PMID Auto GWAS
|PMID=18391952
|Trait=Height
|Title=Genome-wide association analysis identifies 20 loci that influence adult height
|RiskAllele=C
|Pval=2.9999999999999998E-18
|OR=0.05
|ORtxt=[0.03-0.08] SD taller - among males
|OA=1
}}

{{omim
|desc=STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9
|id=611547
|rsnum=1042725
}}
{{PMID Auto
|PMID=19842074
|Title=Insights into the Regulation of a Common Variant of HMGA2 Associated with Human Height During Embryonic Development
}}

{{PharmGKB
|RSID=rs1042725
|Name_s=
|Gene_s=HMGA2
|Feature=
|Evidence=PubMed ID:17767157; Web Resource:http://www.genome.gov/gwastudies/
|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)).
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356689
}}
{{PMID Auto
|PMID=20058197
|Title=Insights into the regulation of a common variant of HMGA2 associated with human height during embryonic development
}}

{{PMID Auto GWAS
|PMID=22504419
|Trait=None
|Title=Common variants at 12q15 and 12q24 are associated with infant head circumference.
|RiskAllele=T
|Pval=3E-10
|OR=0.0650
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=18193045
|Title=Common variants in the GDF5-UQCC region are associated with variation in human height.
|OA=1
}}

{{PMID Auto
|PMID=18350145
|Title=Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts.
|OA=1
}}

{{PMID Auto
|PMID=19030899
|Title=Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.
|OA=1
}}

{{PMID Auto
|PMID=19039035
|Title=Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.
|OA=1
}}

{{PMID Auto
|PMID=19132395
|Title=Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele.
|OA=1
}}

{{PMID Auto
|PMID=19197348
|Title=Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
|OA=1
}}

{{PMID Auto
|PMID=19343178
|Title=Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
|OA=1
}}

{{PMID Auto
|PMID=19376282
|Title=Association of a high mobility group gene (HMGA2) variant with bone mineral density.
|OA=1
}}

{{PMID Auto
|PMID=19458495
|Title=Comprehensive analysis of the impact of SNPs and CNVs on human microRNAs and their regulatory genes.
|OA=1
}}

{{PMID Auto
|PMID=19557161
|Title=Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
|OA=1
}}

{{PMID Auto
|PMID=19930247
|Title=HMGA2 is confirmed to be associated with human adult height.
|OA=1
}}

{{PMID Auto
|PMID=20017971
|Title=Assessing the impact of global versus local ancestry in association studies.
|OA=1
}}

{{PMID Auto
|PMID=20195514
|Title=Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042725
|overall_frequency_n=66
|overall_frequency_d=128
|overall_frequency=0.515625
|n_genomes=41
|n_genomes_annotated=0
|n_haplomes=54
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23202124
  |Trait=Birth weight
  |Title=New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
  |RiskAllele=T
  |Pval=1E-19
  |OR=.05
  |ORtxt=[0.037-0.057] gram decrease
  |OA=1
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}