Rs9930506

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Orientationplus
Geno Mag Summary
(A;A) 0 normal
(A;G)
(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position53796553
GeneFTO
is asnp
is mentioned by
dbSNPrs9930506
PheGenIrs9930506
nextbiors9930506
hapmaprs9930506
1000 genomesrs9930506
hgdprs9930506
ensemblrs9930506
gopubmedrs9930506
geneviewrs9930506
scholarrs9930506
googlers9930506
pharmgkbrs9930506
gwascentralrs9930506
openSNPrs9930506
23andMers9930506
23andMe allrs9930506
SNP Nexus

SNPshotrs9930506
SNPdbers9930506
MSV3drs9930506
GMAF0.2984
Max Magnitude0
? (A;A) (A;G) (G;G) 28
This snp influences obesity however the most strongly linked neighboring snp is rs9939609. You probably want that one.

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.

Neighborrs9932754
Distance26
GWAS
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.


GET Evidence
rs9930506
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.365079
summary



[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 25254029] Effect of the FTO rs9930506 Polymorphism on the Main Comorbidities of the Cardiorenal Metabolic Syndrome in an Elderly Spanish Cohort