rs1799899
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1799899(A;A) |
| Make rs1799899(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 133756968 |
| Gene | TF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799899 |
| dbSNP (classic) | rs1799899 |
| ClinGen | rs1799899 |
| ebi | rs1799899 |
| HLI | rs1799899 |
| Exac | rs1799899 |
| Gnomad | rs1799899 |
| Varsome | rs1799899 |
| LitVar | rs1799899 |
| Map | rs1799899 |
| PheGenI | rs1799899 |
| Biobank | rs1799899 |
| 1000 genomes | rs1799899 |
| hgdp | rs1799899 |
| ensembl | rs1799899 |
| geneview | rs1799899 |
| scholar | rs1799899 |
| rs1799899 | |
| pharmgkb | rs1799899 |
| gwascentral | rs1799899 |
| openSNP | rs1799899 |
| 23andMe | rs1799899 |
| SNPshot | rs1799899 |
| SNPdbe | rs1799899 |
| MSV3d | rs1799899 |
| GWAS Ctlg | rs1799899 |
| GMAF | 0.03581 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
The A allele of rs1799899, also known as the human transferrin G277S mutation, is associated with iron deficiency anemia [PMID 11703331], lower total iron binding capacity (TIBC), and anemia in menstruating white women.
| GWAS snp | |
|---|---|
| PMID | [PMID 21665994 ]
|
| Trait | |
| Title | Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. |
| Risk Allele | A |
| P-val | 1E-9 |
| Odds Ratio | 0.4020 [0.27-0.53] unit decrease |
| ClinVar | |
|---|---|
| Risk | rs1799899(A;A) |
| Alt | rs1799899(A;A) |
| Reference | Rs1799899(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Iron deficiency anemia Atransferrinemia |
| Variation | info |
| Gene | TF |
| CLNDBN | Iron deficiency anemia Atransferrinemia |
| Reversed | 0 |
| HGVS | NC_000003.11:g.133475812G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013457.4, RCV000308514.1, |
[PMID 17601350] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
