rs1113132
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1113132(C;G) |
| Make rs1113132(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 44231853 |
| Gene | EXT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1113132 |
| dbSNP (classic) | rs1113132 |
| ClinGen | rs1113132 |
| ebi | rs1113132 |
| HLI | rs1113132 |
| Exac | rs1113132 |
| Gnomad | rs1113132 |
| Varsome | rs1113132 |
| LitVar | rs1113132 |
| Map | rs1113132 |
| PheGenI | rs1113132 |
| Biobank | rs1113132 |
| 1000 genomes | rs1113132 |
| hgdp | rs1113132 |
| ensembl | rs1113132 |
| geneview | rs1113132 |
| scholar | rs1113132 |
| rs1113132 | |
| pharmgkb | rs1113132 |
| gwascentral | rs1113132 |
| openSNP | rs1113132 |
| 23andMe | rs1113132 |
| SNPshot | rs1113132 |
| SNPdbe | rs1113132 |
| MSV3d | rs1113132 |
| GWAS Ctlg | rs1113132 |
| GMAF | 0.2865 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| Rs1113132 | |
|---|---|
| PubMed | [PMID 17293876] |
| Affy Probeset | SNP_A-2152927 |
| Affy Orientation | reverse |
| On GW 5.0 | 1 |
| Alleles A/B | C/G |
| Ancestral | C |
| Population | CEU |
| Allele | C |
| Case Freq. | 0.76 |
| Control Freq. | 0.73 |
| Odds Ratio Het | 1.15 |
| Odds Ratio Hom | 1.36 |
| Odds Ratio All | |
| Disease | Type II Diabetes (T2D) |
rs1113132 increases susceptibility to Type II Diabetes 1.15 times for heterozygotes (CG) and 1.36 times for homozygotes (CC) [PMID 17293876]
[PMID 17786204
] Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell function.
[PMID 18162508] Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population.
[PMID 18443202] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.
[PMID 18461161] Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.
[PMID 18544707] Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
[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 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 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.
[PMID 23052945] Association between variants of EXT2 and type 2 diabetes: a replication and meta-analysis
[PMID 23458876] ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.
[PMID 25207843] Impact of variants of the EXT2 gene on Type 2 diabetes and its related traits in the Chinese han population
| ClinVar | |
|---|---|
| Risk | rs1113132(G;G) |
| Alt | rs1113132(G;G) |
| Reference | Rs1113132(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | EXT2 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.44253403G>C |
| CLNSRC | |
| CLNACC | RCV000242715.1, |
