SNP Detail For rs1799852
1.Mapping Information
Human SNP ID rs1799852
Human chromosome chr3
Human SNP position 133756878
Pig chromosome chr13
Pig SNP position 82442718
2.Annotation Information
PubMed ID19084217
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19084217
StudyVariants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
Disease/TraitIron status biomarkers
Initial sample459 European ancestry twin pairs
Replication sampleNA
Region3q22.1
Chromosome idchr3
Chromosome position133756878
Reported geneTF
Mapped geneTF
Upstream gene id
Downstream gene id
SNP gene ids7018
Upstream gene distance
Downstream gene distance
SNP risk allelers1799852-?
SNPsrs1799852
Merged0
SNP id current1799852
Contextsynonymous_variant
Intergenic0
Allele frequency0.09
P value0.000005
Pvalue mlog5.30102999566398
P value text(serum transferrin)
Or beta0.43
%95 Ci[0.25-0.61] s.d. decrease
PlatformIllumina [315887]
CNVN
Mapped traitiron biomarker measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004461
Study accessionGCST000301
PubMed ID25352340
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/25352340
StudyNovel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
Disease/TraitIron status biomarkers (transferrin saturation)
Initial sample23,986 European ancestry individuals
Replication sampleUp to 24,986 European ancestry individuals
Region3q22.1
Chromosome idchr3
Chromosome position133756878
Reported geneTF
Mapped geneTF
Upstream gene id
Downstream gene id
SNP gene ids7018
Upstream gene distance
Downstream gene distance
SNP risk allelers1799852-T
SNPsrs1799852
Merged0
SNP id current1799852
Contextsynonymous_variant
Intergenic0
Allele frequency0.098
P value0.000000007
Pvalue mlog8.15490195998574
P value text
Or beta0.11
%95 Ci[0.073-0.147] unit increase
PlatformAffymetrix, Illumina [~ 2100000] (imputed)
CNVN
Mapped traitiron biomarker measurement, transferrin saturation measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004461, http://www.ebi.ac.uk/efo/EFO_0006333
Study accessionGCST002680