rs6214
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 0 | common in complete genomics |
| (G;G) | 0 | common in clinvar |
| Make rs6214(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 102399791 |
| Gene | IGF1, LOC105369942 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6214 |
| dbSNP (classic) | rs6214 |
| ClinGen | rs6214 |
| ebi | rs6214 |
| HLI | rs6214 |
| Exac | rs6214 |
| Gnomad | rs6214 |
| Varsome | rs6214 |
| LitVar | rs6214 |
| Map | rs6214 |
| PheGenI | rs6214 |
| Biobank | rs6214 |
| 1000 genomes | rs6214 |
| hgdp | rs6214 |
| ensembl | rs6214 |
| geneview | rs6214 |
| scholar | rs6214 |
| rs6214 | |
| pharmgkb | rs6214 |
| gwascentral | rs6214 |
| openSNP | rs6214 |
| 23andMe | rs6214 |
| SNPshot | rs6214 |
| SNPdbe | rs6214 |
| MSV3d | rs6214 |
| GWAS Ctlg | rs6214 |
| GMAF | 0.4472 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19784788] Association of IGF1 and IGFBP3 polymorphisms with colorectal polyps and colorectal cancer risk
[PMID 20403354] A population-based study of IGF axis polymorphisms and the esophageal inflammation, metaplasia, adenocarcinoma sequence
[PMID 21638018] Identification of genes for bone mineral density variation by computational disease gene identification strategy
[PMID 17376820] Polymorphism in the insulin-like growth factor 1 gene is associated with age at menarche in caucasian females.
[PMID 18199734
] IGF-I and IGF-II genetic variation and breast cancer risk in Chinese women: results from the Shanghai Breast Cancer Study.
[PMID 18317720
] Association analysis of the IGF1 gene with childhood growth, IGF-1 concentrations and type 1 diabetes.
[PMID 18454203
] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.
[PMID 19240240
] IGF-I and IGFBP-3 polymorphisms in relation to circulating levels among African American and Caucasian women.
[PMID 20435602
] Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort.
[PMID 23800627] Associations of IGF-1 gene variants and milk protein intake with IGF-I concentrations in infants at age 6 months - results from a randomized clinical trial.
[PMID 26309715
] The association between IGF-1 polymorphisms and high myopia
| ClinVar | |
|---|---|
| Risk | rs6214(A;A) |
| Alt | rs6214(A;A) |
| Reference | Rs6214(G;G) |
| Significance | Non-pathogenic |
| Disease | Insulin-like growth factor I deficiency |
| Variation | info |
| Gene | IGF1 |
| CLNDBN | Insulin-like growth factor I deficiency |
| Reversed | 1 |
| HGVS | NC_000012.11:g.102793569C>T |
| CLNSRC | |
| CLNACC | RCV000307677.1, |
[PMID 29172265
] SNPs in the Insulin-Like Growth Factor Gene and Obesity Impact on Colorectal Cancer in Egyptians
[PMID 29232358
] Genetic Polymorphisms of Insulin-Like Growth Factor 1 Are Associated with Osteosarcoma Risk and Prognosis.
[PMID 32986769
] Interactions among IGF-1, AKT2, FOXO1, and FOXO3 variations and between genes and physical activities on physical performance in community-dwelling elders.
