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From SNPedia

Geno Mag Summary
(A;A) 0 normal
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs9930506
1000 genomesrs9930506
GWAS Ctlgrs9930506
Max Magnitude0
? (A;A) (A;G) (G;G) 28

This snp influences obesity however

  • the most strongly linked neighboring snp is rs9939609
  • some evidence suggests rs1421085 may be the true causative snp

This plos genetics paper reports rs9930506 showed the strongest association with BMI (p = 8.6 *10-7), hip circumference (p = 3.4 * 10-8) and weight (p = 9.1 * 10-7). homozygotes for the rare "G" allele were were 1.3 BMI units heavier than homozygotes for the common "A" allele.

This SNP did not show any association with obesity, type-2 diabetes or any other related traits in a study of 3,210 Chinese subjects. Furthermore, the minor allele frequency was much lower in Chinese populations compared to populations of European descent.[PMID 17959933]

[PMID 19148128] rs9930506 (A;A) showed decreased levels of methylated PPARGC1A in comparison with AG + GG genotypes, suggesting a potential role of promoter PPARGC1A methylation in metabolic programming.

SNP rs9930506
PubMedID [PMID 17658951OA-icon.png]
Condition Obesity-related traits
Gene FTO
Risk Allele G
pValue 9.00E-007
OR 0.12
95% CI NR) SD lower (weight

[PMID 22454631OA-icon.png] Association of FTO Polymorphisms with Early Age of Obesity in Obese Italian Subjects.

[PMID 18325910OA-icon.png] Genome-wide association scans identified CTNNBL1 as a novel gene for obesity.

[PMID 18379722OA-icon.png] Variations in the FTO gene are associated with severe obesity in the Japanese.

[PMID 18469204OA-icon.png] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.

[PMID 18487448OA-icon.png] Common variation in the fat mass and obesity-associated (FTO) gene confers risk of obesity and modulates BMI in the Chinese population.

[PMID 18599522OA-icon.png] FTO variants are associated with obesity in the Chinese and Malay populations in Singapore.

[PMID 18647953OA-icon.png] Fat mass-and obesity-associated (FTO) gene variant is associated with obesity: longitudinal analyses in two cohort studies and functional test.

[PMID 19322589OA-icon.png] Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study.

[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 19679263OA-icon.png] Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.

[PMID 20018076OA-icon.png] Tests for candidate-gene interaction for longitudinal quantitative traits measured in a large cohort.

[PMID 20075150OA-icon.png] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.

[PMID 20442772OA-icon.png] Common SNPs in FTO gene are associated with obesity related anthropometric traits in an island population from the eastern Adriatic coast of Croatia.

[PMID 20502638OA-icon.png] Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study.

[PMID 21283731OA-icon.png] FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.

[PMID 21688152OA-icon.png] Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk.

[PMID 24106974] Association between fat mass and obesity-associated (FTO) gene and hip fracture susceptibility

[PMID 23103831] VDR TaqI is associated with obesity in the Greek population.

[PMID 25254029OA-icon.png] Effect of the FTO rs9930506 Polymorphism on the Main Comorbidities of the Cardiorenal Metabolic Syndrome in an Elderly Spanish Cohort

[PMID 25966591] [Association of polymorphic variants of FTO and MC4R genes with obesity in a Tatar population]

[PMID 26726774OA-icon.png] Gender-Dependent Association of FTO Polymorphisms with Body Mass Index in Mexicans.

[PMID 26935496] The Frequencies of Haplotypes of FTO Gene Variants and Their Association with the Distribution of Body Fat in Non-Obese Poles.

[PMID 28585683] The age of developing diabetes and FTO polymorphisms (rs9939609, rs1421085, and rs9930506).

[PMID 29463151] The role of FTO variants in the susceptibility of polycystic ovary syndrome and in vitro fertilization outcomes in Chinese women.

[PMID 31126299OA-icon.png] Changes in FTO and IRX3 gene expression in obese and overweight male adolescents undergoing an intensive lifestyle intervention and the role of FTO genotype in this interaction.

[PMID 31622411OA-icon.png] The FTO genetic variants are associated with dietary intake and body mass index amongst Emirati population.