rs1799852
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common on affy axiom data |
| (T;T) | 2.5 | lower serum transferrin levels |
| Make rs1799852(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 133756878 |
| Gene | TF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799852 |
| dbSNP (classic) | rs1799852 |
| ClinGen | rs1799852 |
| ebi | rs1799852 |
| HLI | rs1799852 |
| Exac | rs1799852 |
| Gnomad | rs1799852 |
| Varsome | rs1799852 |
| LitVar | rs1799852 |
| Map | rs1799852 |
| PheGenI | rs1799852 |
| Biobank | rs1799852 |
| 1000 genomes | rs1799852 |
| hgdp | rs1799852 |
| ensembl | rs1799852 |
| geneview | rs1799852 |
| scholar | rs1799852 |
| rs1799852 | |
| pharmgkb | rs1799852 |
| gwascentral | rs1799852 |
| openSNP | rs1799852 |
| 23andMe | rs1799852 |
| SNPshot | rs1799852 |
| SNPdbe | rs1799852 |
| MSV3d | rs1799852 |
| GWAS Ctlg | rs1799852 |
| GMAF | 0.1405 |
| Max Magnitude | 2.5 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 19084217 ]
|
| Trait | Serum markers of iron status |
| Title | Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels |
| Risk Allele | |
| P-val | 0.000005 |
| Odds Ratio | 0.43 [0.25-0.61] SD decrease |
[PMID 16251468] Survey of allelic expression using EST mining.
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
[PMID 19673882] A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
[PMID 21978626] potential markers of iron deficiency anaemia risk: two in the transferrin gene TF (rs3811647, rs1799852) and two in the HFE gene (C282Y, H63D), explain 35% of the genetic variation or heritability of serum transferrin in menstruating women. The minor allele of rs3811647 was associated with higher serum transferrin levels and lower transferrin saturation, while the minor alleles of rs1799852 and the C282Y and H63D mutations of HFE were associated with lower serum transferrin levels.
http://www.nutritionandmetabolism.com/content/8/1/69
[PMID 19084217] serum transferrin: Two SNPs on TF gene, rs1799852 (MAF 0.09), and rs2280673 (MAF 0.34), which were independently influencing variation in serum transferrin (nominal p = 4.7 × 10−6 and 2.3 × 10−4, respectively).
rs1799852 and rs2280673 were also associated with serum ferritin (p = 0.04 and 0.003) but not with serum iron or transferrin saturation.
These findings are potentially important for our understanding of iron metabolism and of regulation of hepatic protein secretion, and also strongly support the hypothesis that the genetic architecture of some endophenotypes may be simpler than that of disease.
[PMID 21978626] potential markers of iron deficiency anaemia risk: two in the transferrin gene TF (rs3811647, rs1799852) and two in the HFE gene (C282Y, H63D), explain 35% of the genetic variation or heritability of serum transferrin in menstruating women. The minor allele of rs3811647 was associated with higher serum transferrin levels and lower transferrin saturation, while the minor alleles of rs1799852 and the C282Y and H63D mutations of HFE were associated with lower serum transferrin levels.
http://www.nutritionandmetabolism.com/content/8/1/69
[PMID 19084217] serum transferrin: Two SNPs on TF gene, rs1799852 (MAF 0.09), and rs2280673 (MAF 0.34), which were independently influencing variation in serum transferrin (nominal p = 4.7 × 10−6 and 2.3 × 10−4, respectively).
rs1799852 and rs2280673 were also associated with serum ferritin (p = 0.04 and 0.003) but not with serum iron or transferrin saturation.
These findings are potentially important for our understanding of iron metabolism and of regulation of hepatic protein secretion, and also strongly support the hypothesis that the genetic architecture of some endophenotypes may be simpler than that of disease.
[PMID 24663082] Influence of diet, menstruation and genetic factors on iron status: a cross-sectional study in Spanish women of childbearing age
| ClinVar | |
|---|---|
| Risk | Rs1799852(T;T) |
| Alt | Rs1799852(T;T) |
| Reference | Rs1799852(C;C) |
| Significance | Non-pathogenic |
| Disease | Atransferrinemia |
| Variation | info |
| Gene | TF |
| CLNDBN | Atransferrinemia |
| Reversed | 0 |
| HGVS | NC_000003.11:g.133475722C>T |
| CLNSRC | |
| CLNACC | RCV000343557.1, |
