{{Rsnum
|rsid=8756
|Gene=HMGA2
|Chromosome=12
|position=65965972
|Orientation=plus
|GMAF=0.3278
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=HMGA2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 33.0 | 39.3 | 27.7
| HCB | 79.6 | 20.4 | 0.0
| JPT | 78.8 | 20.4 | 0.9
| YRI | 27.9 | 51.0 | 21.1
| ASW | 33.3 | 52.6 | 14.0
| CHB | 79.6 | 20.4 | 0.0
| CHD | 78.9 | 18.3 | 2.8
| GIH | 59.0 | 33.0 | 8.0
| LWK | 42.2 | 45.0 | 12.8
| MEX | 55.2 | 39.7 | 5.2
| MKK | 33.5 | 49.0 | 17.4
| TSI | 34.3 | 48.0 | 17.6
| HapMapRevision=28
}}{{PMID Auto GWAS
|PMID=19343178
|Trait=Height
|Title=Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size
|RiskAllele=
|Pval=5E-14
|OA=1
}}
{{PMID Auto GWAS
|PMID=18391951
|Trait=Height
|Title=Many sequence variants affecting diversity of adult human height
|RiskAllele=C
|Pval=2E-16
|OR=6.60
|ORtxt=[5.03-8.17] % SD taller
}}

{{omim
|desc=STATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9
|id=611547
|rsnum=8756
}}

{{PharmGKB
|RSID=rs8756
|Name_s=
|Gene_s=HMGA2
|Feature=
|Evidence=PubMed ID:19343178; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. (Initial Sample Size: 12,611 individuals; Replication Sample Size: 7,187 individuals); (Region: 12q14.3; Reported Gene(s): HMGA2; Risk Allele: rs8756-?); (p-value= 0.00000000000005).This variant is associated with Height.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739866
}}

{{PMID Auto GWAS
|PMID=20397748
|Trait=Height
|Title=Genome-Wide Association Study of Height and Body Mass Index in Australian Twin Families
|RiskAllele=A
|Pval=4E-7
|OR=0.07
|ORtxt=[0.03-0.11] SD decrease
|OA=1
}}

{{PMID Auto
|PMID=17267408
|Title=Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
|OA=1
}}

{{PMID Auto
|PMID=18952825
|Title=Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.
|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=19132395
|Title=Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele.
|OA=1
}}

{{PMID Auto
|PMID=20546612
|Title=The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs8756
|overall_frequency_n=80
|overall_frequency_d=126
|overall_frequency=0.634921
|n_genomes=50
|n_genomes_annotated=0
|n_haplomes=69
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}