rs9300039
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | normal risk | |
| (A;C) | 1.5x risk for T2D | |
| (C;C) | >1.5x risk for T2D |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 41893816 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9300039 |
| dbSNP (classic) | rs9300039 |
| ClinGen | rs9300039 |
| ebi | rs9300039 |
| HLI | rs9300039 |
| Exac | rs9300039 |
| Gnomad | rs9300039 |
| Varsome | rs9300039 |
| LitVar | rs9300039 |
| Map | rs9300039 |
| PheGenI | rs9300039 |
| Biobank | rs9300039 |
| 1000 genomes | rs9300039 |
| hgdp | rs9300039 |
| ensembl | rs9300039 |
| geneview | rs9300039 |
| scholar | rs9300039 |
| rs9300039 | |
| pharmgkb | rs9300039 |
| gwascentral | rs9300039 |
| openSNP | rs9300039 |
| 23andMe | rs9300039 |
| SNPshot | rs9300039 |
| SNPdbe | rs9300039 |
| MSV3d | rs9300039 |
| GWAS Ctlg | rs9300039 |
| GMAF | 0.1345 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs9300039, a SNP on chromosome 11 that is unusual is being over 1,000,000 base-pairs away from the nearest known gene, has been identified as a risk factor for type-2 diabetes in a study of over 2,000 Caucasian patients. The odds ratio for the risk allele rs9300039(C) was 1.48, (CI: 1.28-1.71, p=5.7x10e-8). [PMID 17463248
]
This SNP is also mentioned in a related blog series.
Called into question by table 1 of 10.1371/journal.pbio.1000294
| GWAS | |
|---|---|
| SNP | rs9300039 |
| PubMedID | [PMID 17463248]
|
| Condition | Type 2 diabetes |
| Gene | Intergenic |
| Risk Allele | C |
| pValue | 4.00E-007 |
| OR | 1.25 |
| 95% CI | 1.15-1.37 |
[PMID 17786212] Heterogeneity in meta-analyses of genome-wide association investigations.
[PMID 17827400] Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies.
[PMID 18162508] Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population.
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18443202] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.
[PMID 18633108] Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.
[PMID 18689899] Exchangeable models of complex inherited diseases.
[PMID 19008344] Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians.
[PMID 20554072] Gestational diabetes mellitus screening based on the gene chip technique.
[PMID 20823317] is-rSNP: a novel technique for in silico regulatory SNP detection.
[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.
[PMID 21283728] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.
