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rs9300039

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) normal risk
(A;C) 1.5x risk for T2D
(C;C) >1.5x risk for T2D
ReferenceGRCh38 38.1/141
Chromosome11
Position41893816
is asnp
is mentioned by
dbSNPrs9300039
ebirs9300039
HLIrs9300039
Exacrs9300039
Varsomers9300039
Maprs9300039
PheGenIrs9300039
hapmaprs9300039
1000 genomesrs9300039
hgdprs9300039
ensemblrs9300039
gopubmedrs9300039
geneviewrs9300039
scholarrs9300039
googlers9300039
pharmgkbrs9300039
gwascentralrs9300039
openSNPrs9300039
23andMers9300039
23andMe allrs9300039
SNP Nexus

SNPshotrs9300039
SNPdbers9300039
MSV3drs9300039
GWAS Ctlgrs9300039
GMAF0.1345
Max Magnitude
? (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 17463248OA-icon.png]

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 17463248OA-icon.png]
Condition Type 2 diabetes
Gene Intergenic
Risk Allele C
pValue 4.00E-007
OR 1.25
95% CI 1.15-1.37




[PMID 17786212OA-icon.png] 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 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

[PMID 18443202OA-icon.png] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.

[PMID 18633108OA-icon.png] 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 18689899OA-icon.png] Exchangeable models of complex inherited diseases.

[PMID 19008344OA-icon.png] 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 20823317OA-icon.png] is-rSNP: a novel technique for in silico regulatory SNP detection.

[PMID 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.

[PMID 21283728OA-icon.png] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.


GET Evidence
rs9300039
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.078125
summary