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.