rs2229765
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.1 | Lower IGF-1 levels; some reported associations with longevity as well as certain cancers |
| (G;G) | 1.1 | Normal IGF-1 level |
| Make rs2229765(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 98934996 |
| Gene | IGF1R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2229765 |
| dbSNP (classic) | rs2229765 |
| ClinGen | rs2229765 |
| ebi | rs2229765 |
| HLI | rs2229765 |
| Exac | rs2229765 |
| Gnomad | rs2229765 |
| Varsome | rs2229765 |
| LitVar | rs2229765 |
| Map | rs2229765 |
| PheGenI | rs2229765 |
| Biobank | rs2229765 |
| 1000 genomes | rs2229765 |
| hgdp | rs2229765 |
| ensembl | rs2229765 |
| geneview | rs2229765 |
| scholar | rs2229765 |
| rs2229765 | |
| pharmgkb | rs2229765 |
| gwascentral | rs2229765 |
| openSNP | rs2229765 |
| 23andMe | rs2229765 |
| SNPshot | rs2229765 |
| SNPdbe | rs2229765 |
| MSV3d | rs2229765 |
| GWAS Ctlg | rs2229765 |
| GMAF | 0.371 |
| Max Magnitude | 2.1 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18477064] rs2229765(A;A) associated with ischemic stroke (OR = 1.641, P = 0.022) in a Chinese population
[PMID 19460140
] A polymorphic variant of the insulin-like growth factor 1 (IGF-1) receptor correlates with male longevity in the Italian population: a genetic study and evaluation of circulating IGF-1 from the "Treviso Longeva (TRELONG)" study
[PMID 22115178] Insulin-like growth factor 1 receptor polymorphism rs2229765 and circulating interleukin-6 level affect male longevity in a population-based prospective study (Treviso Longeva- TRELONG)
[PMID 19124506] Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
[PMID 19124510] Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma.
[PMID 19877134] Sequence variation in IGF1R is associated with differences in insulin levels in nondiabetic Old Order Amish.
[PMID 20302654] Genotypes and haplotypes in the insulin-like growth factors, their receptors and binding proteins in relation to plasma metabolic levels and mammographic density.
[PMID 20625407] A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene.
[PMID 21047277] Polymorphisms of insulin-like growth factor-1 (IGF-1) and IGF-1 receptor (IGF-1R) contribute to pathologic progression in childhood IgA nephropathy.
[PMID 21304894] Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis.
[PMID 24350933] Association Between Genetic Variations In The Insulin/Insulin-Like Growth Factor (Igf-1) Signaling Pathway And Longevity: A Systematic Review And Meta-Analysis
[PMID 22909219] Polymorphism of IGF1R is associated with papillary thyroid carcinoma in a Korean population.
[PMID 25189651] Association of insulin-like growth factor-I receptor polymorphism with colorectal cancer development
[PMID 26535220] Association between exonic polymorphism (rs629849, Gly1619Arg) of IGF2R gene and obesity in Korean population
| ClinVar | |
|---|---|
| Risk | Rs2229765(A;A) |
| Alt | Rs2229765(A;A) |
| Reference | Rs2229765(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Insulin-Like Growth Factor I Resistance |
| Variation | info |
| Gene | IGF1R |
| CLNDBN | not specified Insulin-Like Growth Factor I Resistance |
| Reversed | 0 |
| HGVS | NC_000015.9:g.99478225G>A |
| CLNSRC | |
| CLNACC | RCV000175020.1, RCV000279116.1, |
[PMID 32150843] A Possible Link of Genetic Variations in ER/IGF1R Pathway and Risk of Melanoma.
