Rs9930506
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9930506 |
| PheGenI | rs9930506 |
| nextbio | rs9930506 |
| hapmap | rs9930506 |
| 1000 genomes | rs9930506 |
| hgdp | rs9930506 |
| ensembl | rs9930506 |
| gopubmed | rs9930506 |
| geneview | rs9930506 |
| scholar | rs9930506 |
| rs9930506 | |
| pharmgkb | rs9930506 |
| gwascentral | rs9930506 |
| openSNP | rs9930506 |
| 23andMe | rs9930506 |
| 23andMe all | rs9930506 |
| SNP Nexus | |
| SNPshot | rs9930506 |
| SNPdbe | rs9930506 |
| MSV3d | rs9930506 |
| Gene | FTO |
| Chromosome | 16 |
| Orientation | plus |
| GMAF | 0.2976 |
| Position | 53830465 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | ||
| (G;G) |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
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.
| Neighbor | rs9932754 |
| Distance | 26 |
| GWAS | |
|---|---|
| SNP | rs9930506 |
| PubMedID | [PMID 17658951] |
| Condition | Obesity-related traits |
| Gene | FTO |
| Risk Allele | G |
| pValue | 9.00E-007 |
| OR | 0.12 |
| 95% CI | NR) SD lower (weight |
[PMID 22454631] Association of FTO Polymorphisms with Early Age of Obesity in Obese Italian Subjects.
[PMID 18325910] Genome-wide association scans identified CTNNBL1 as a novel gene for obesity.
[PMID 18379722] Variations in the FTO gene are associated with severe obesity in the Japanese.
[PMID 18469204] 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 18487448] Common variation in the fat mass and obesity-associated (FTO) gene confers risk of obesity and modulates BMI in the Chinese population.
[PMID 18599522] FTO variants are associated with obesity in the Chinese and Malay populations in Singapore.
[PMID 18647953] Fat mass-and obesity-associated (FTO) gene variant is associated with obesity: longitudinal analyses in two cohort studies and functional test.
[PMID 19322589] Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19679263] Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.
[PMID 20018076] Tests for candidate-gene interaction for longitudinal quantitative traits measured in a large cohort.
[PMID 20075150] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
[PMID 20442772] Common SNPs in FTO gene are associated with obesity related anthropometric traits in an island population from the eastern Adriatic coast of Croatia.
[PMID 20502638] Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study.
[PMID 21283731] FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome.
[PMID 21688152] Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk.
| GET Evidence | |
|---|---|
| rs9930506 | |
| aa_change | |
| aa_change_short | |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | 0.365079 |
| summary | |
