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rs1042725

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.5 ~0.8cm taller
(C;T) 1.5 ~0.4cm taller
(T;T) Average height
ReferenceGRCh38 38.1/141
Chromosome12
Position65964567
GeneHMGA2
is asnp
is mentioned by
dbSNPrs1042725
ebirs1042725
Exacrs1042725
Maprs1042725
PheGenIrs1042725
hapmaprs1042725
1000 genomesrs1042725
hgdprs1042725
ensemblrs1042725
gopubmedrs1042725
geneviewrs1042725
scholarrs1042725
googlers1042725
pharmgkbrs1042725
gwascentralrs1042725
openSNPrs1042725
23andMers1042725
23andMe allrs1042725
SNP Nexus

SNPshotrs1042725
SNPdbers1042725
MSV3drs1042725
GWAS Ctlgrs1042725
GMAF0.4325
Max Magnitude1.5
? (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 17767157OA-icon.png]
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 18391950OA-icon.png]
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 18391952OA-icon.png]
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
OMIM611547
DescSTATURE QUANTITATIVE TRAIT LOCUS 9; STQTL9
Variant
Relatedalso

[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 22504419OA-icon.png]
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 18193045OA-icon.png] Common variants in the GDF5-UQCC region are associated with variation in human height.


[PMID 18350145OA-icon.png] Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts.


[PMID 19030899OA-icon.png] Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.


[PMID 19039035OA-icon.png] Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation.


[PMID 19132395OA-icon.png] Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele.


[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.


[PMID 19343178OA-icon.png] Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.


[PMID 19376282OA-icon.png] Association of a high mobility group gene (HMGA2) variant with bone mineral density.


[PMID 19458495OA-icon.png] Comprehensive analysis of the impact of SNPs and CNVs on human microRNAs and their regulatory genes.


[PMID 19557161OA-icon.png] Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.


[PMID 19930247OA-icon.png] HMGA2 is confirmed to be associated with human adult height.


[PMID 20017971OA-icon.png] Assessing the impact of global versus local ancestry in association studies.


[PMID 20195514OA-icon.png] Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.


GET Evidence
rs1042725
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.515625
summary



GWAS snp
PMID [PMID 23202124OA-icon.png]
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