Human SNP ID | rs1799852 |
---|---|
Human chromosome | chr3 |
Human SNP position | 133756878 |
Pig chromosome | chr13 |
Pig SNP position | 82442718 |
PubMed ID | 19084217 |
---|---|
Journal | Am J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/19084217 |
Study | Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. |
Disease/Trait | Iron status biomarkers |
Initial sample | 459 European ancestry twin pairs |
Replication sample | NA |
Region | 3q22.1 |
Chromosome id | chr3 |
Chromosome position | 133756878 |
Reported gene | TF |
Mapped gene | TF |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 7018 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1799852-? |
SNPs | rs1799852 |
Merged | 0 |
SNP id current | 1799852 |
Context | synonymous_variant |
Intergenic | 0 |
Allele frequency | 0.09 |
P value | 0.000005 |
Pvalue mlog | 5.30102999566398 |
P value text | (serum transferrin) |
Or beta | 0.43 |
%95 Ci | [0.25-0.61] s.d. decrease |
Platform | Illumina [315887] |
CNV | N |
Mapped trait | iron biomarker measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004461 |
Study accession | GCST000301 |
PubMed ID | 25352340 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/25352340 |
Study | Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. |
Disease/Trait | Iron status biomarkers (transferrin saturation) |
Initial sample | 23,986 European ancestry individuals |
Replication sample | Up to 24,986 European ancestry individuals |
Region | 3q22.1 |
Chromosome id | chr3 |
Chromosome position | 133756878 |
Reported gene | TF |
Mapped gene | TF |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 7018 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs1799852-T |
SNPs | rs1799852 |
Merged | 0 |
SNP id current | 1799852 |
Context | synonymous_variant |
Intergenic | 0 |
Allele frequency | 0.098 |
P value | 0.000000007 |
Pvalue mlog | 8.15490195998574 |
P value text | |
Or beta | 0.11 |
%95 Ci | [0.073-0.147] unit increase |
Platform | Affymetrix, Illumina [~ 2100000] (imputed) |
CNV | N |
Mapped trait | iron biomarker measurement, transferrin saturation measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004461, http://www.ebi.ac.uk/efo/EFO_0006333 |
Study accession | GCST002680 |