rs689
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs689(A;A) |
| Make rs689(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2160994 |
| Gene | INS, INS-IGF2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs689 |
| dbSNP (classic) | rs689 |
| ClinGen | rs689 |
| ebi | rs689 |
| HLI | rs689 |
| Exac | rs689 |
| Gnomad | rs689 |
| Varsome | rs689 |
| LitVar | rs689 |
| Map | rs689 |
| PheGenI | rs689 |
| Biobank | rs689 |
| 1000 genomes | rs689 |
| hgdp | rs689 |
| ensembl | rs689 |
| geneview | rs689 |
| scholar | rs689 |
| rs689 | |
| pharmgkb | rs689 |
| gwascentral | rs689 |
| openSNP | rs689 |
| 23andMe | rs689 |
| SNPshot | rs689 |
| SNPdbe | rs689 |
| MSV3d | rs689 |
| GWAS Ctlg | rs689 |
| GMAF | 0.3352 |
| Max Magnitude | 0 |
A strong association between rs689, a SNP within the insulin INS gene, has been reported with type-1 diabetes [PMID 15220214]
Several studies (including [PMID 17554300
]) have mentioned replicating this result, although without mentioning specific risk odds.
[PMID 19956106] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families
| GWAS snp | |
|---|---|
| PMID | [PMID 21829393]
|
| Trait | |
| Title | Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. |
| Risk Allele | |
| P-val | 0 |
| Odds Ratio | None [2.04-2.63] |
[PMID 16595598] The INS VNTR locus does not associate with smallness for gestational age (SGA) but interacts with SGA to increase insulin resistance in young adults.
[PMID 17334650] A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene.
[PMID 17554260] Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
[PMID 17606874] Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.
[PMID 17667841] Association between paternally inherited haplotypes upstream of the insulin gene and umbilical cord IGF-II levels.
[PMID 17683561] The TCF7L2 locus and type 1 diabetes.
[PMID 17700581] Association between small for gestational age and paternally inherited 5' insulin haplotypes.
[PMID 18085551] Haplotype analysis of the IGF2-INS-TH gene cluster in Parkinson's disease.
[PMID 18252225] On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.
[PMID 18292987] Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes.
[PMID 18310307] Genetic similarities between latent autoimmune diabetes in adults, type 1 diabetes, and type 2 diabetes.
[PMID 18375961] Polymorphism of genes related to insulin sensitivity and the risk of biliary tract cancer and biliary stone: a population-based case-control study in Shanghai, China.
[PMID 18556337] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).
[PMID 18940880] Association of type 1 diabetes with two Loci on 12q13 and 16p13 and the influence coexisting thyroid autoimmunity in Japanese.
[PMID 19020323] Genotype score in addition to common risk factors for prediction of type 2 diabetes.
[PMID 19073967] Shared and distinct genetic variants in type 1 diabetes and celiac disease.
[PMID 19168599] Type 1 diabetes in the BB rat: a polygenic disease.
[PMID 19188433] Do non-HLA genes influence development of persistent islet autoimmunity and type 1 diabetes in children with high-risk HLA-DR,DQ genotypes?
[PMID 19434426] Common polymorphic variation in the genetically diverse African insulin gene and its association with size at birth.
[PMID 19956109] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.
[PMID 20144318] A strategy for analyzing gene-nutrient interactions in type 2 diabetes.
[PMID 20628762] Allele-specific recognition of the 3' splice site of INS intron 1.
[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.
[PMID 22511809] Association of variants in HLA-DQA1-DQB1, PTPN22, INS, and CTLA4 with GAD autoantibodies and insulin secretion in nondiabetic adults of the Botnia Prospective Study.
[PMID 23721563] Associations of polymorphisms in non-HLA loci with autoantibodies at the diagnosis of type 1 diabetes: INS and IKZF4 associate with insulin autoantibodies
[PMID 24275212] The role of tyrosine hydroxylase gene variants in suicide attempt in schizophrenia
[PMID 23835325] Patterns of beta-cell autoantibody appearance and genetic associations during the first years of life.
[PMID 26074154] Non-HLA gene effects on the disease process of type 1 diabetes: From HLA susceptibility to overt disease.
[PMID 28646072] Genetic and Environmental Interactions Modify the Risk of Diabetes-Related Autoimmunity by 6 Years of Age: The TEDDY Study.
| ClinVar | |
|---|---|
| Risk | rs689(A;A) |
| Alt | rs689(A;A) |
| Reference | Rs689(T;T) |
| Significance | Non-pathogenic |
| Disease | Transient Neonatal Diabetes Segawa syndrome Maturity-onset diabetes of the young |
| Variation | info |
| Gene | INS INS-IGF2 |
| CLNDBN | Transient Neonatal Diabetes, Dominant/Recessive Segawa syndrome, autosomal recessive Maturity-onset diabetes of the young |
| Reversed | 1 |
| HGVS | NC_000011.9:g.2182224A>T |
| CLNSRC | |
| CLNACC | RCV000280575.1, RCV000299006.1, RCV000386638.1, |
[PMID 32061050] DNA Methylation Near the INS Gene is Associated with INS Genetic Variation (rs689) and Type 1 Diabetes in the Diabetes Autoimmunity Study in the Young (DAISY).
