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.