rs1799852

Homo sapiens
C>T
TF : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0128 (15652/121382,ExAC)
T=0118 (3544/29948,GnomAD)
T=0085 (2497/29118,TOPMED)
C==0085 (1107/13006,GO-ESP)
T=0143 (714/5008,1000G)
T=0095 (367/3854,ALSPAC)
T=0093 (344/3708,TWINSUK)
chr3:133756878 (GRCh38.p7) (3q22.1)
AD
GWASdb2
16   publication(s)
See rs on genome
71 Enhancers around
51 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133756878C>T
GRCh37.p13 chr 3NC_000003.11:g.133475722C>T
TF RefSeqGeneNG_013080.1:g.15746C>T

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.739C>TL [CTG]> L [TTG]Coding Sequence Variant
serotransferrin isoform 1 precursorNP_001054.1:p.Leu...NP_001054.1:p.Leu247=L [Leu]> L [Leu]Synonymous Variant
TF transcript variant X1XM_017007089.1:c....XM_017007089.1:c.739C>TL [CTG]> L [TTG]Coding Sequence Variant
serotransferrin isoform X1XP_016862578.1:p....XP_016862578.1:p.Leu247=L [Leu]> L [Leu]Synonymous Variant
TF transcript variant X2XM_017007090.1:c....XM_017007090.1:c.739C>TL [CTG]> L [TTG]Coding Sequence Variant
serotransferrin isoform X1XP_016862579.1:p....XP_016862579.1:p.Leu247=L [Leu]> L [Leu]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.950T=0.050
1000GenomesAmericanSub694C=0.860T=0.140
1000GenomesEast AsianSub1008C=0.777T=0.223
1000GenomesEuropeSub1006C=0.864T=0.136
1000GenomesGlobalStudy-wide5008C=0.857T=0.143
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.905T=0.095
The Exome Aggregation ConsortiumAmericanSub21980C=0.899T=0.100
The Exome Aggregation ConsortiumAsianSub25148C=0.813T=0.187
The Exome Aggregation ConsortiumEuropeSub73346C=0.882T=0.117
The Exome Aggregation ConsortiumGlobalStudy-wide121382C=0.871T=0.128
The Exome Aggregation ConsortiumOtherSub908C=0.860T=0.140
The Genome Aggregation DatabaseAfricanSub8724C=0.940T=0.060
The Genome Aggregation DatabaseAmericanSub838C=0.870T=0.130
The Genome Aggregation DatabaseEast AsianSub1618C=0.718T=0.282
The Genome Aggregation DatabaseEuropeSub18466C=0.869T=0.130
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.881T=0.118
The Genome Aggregation DatabaseOtherSub302C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.914T=0.085
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.907T=0.093
PMID Title Author Journal
19673882A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.Constantine CCBr J Haematol
27437086Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.Eom SYToxicol Res
22815867Genetic determinants for body iron store and type 2 diabetes risk in US men and women.He MPLoS One
23996192Toenail iron, genetic determinants of iron status, and the risk of glioma.Anic GMCancer Causes Control
24391736The contribution of diet and genotype to iron status in women: a classical twin study.Fairweather-Tait SJPLoS One
27115882Transferrin Level Before Treatment and Genetic Polymorphism in HFE Gene as Predictive Markers for Response to Adalimumab in Crohn's Disease Patients.Repnik KBiochem Genet
22232660Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene.Jahanshad NProc Natl Acad Sci U S A
23386860Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.Pasquale LRFront Genet
27332551Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry.Gichohi-Wainaina WNPLoS One
17601350A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.Harris SEBMC Genet
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
19084217Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.Benyamin BAm J Hum Genet
21978626Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women.Blanco-Rojo RNutr Metab (Lond)
26582562Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver.Engelken JMol Biol Evol
20095037Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study.McLaren CEAm J Hematol
16251468Survey of allelic expression using EST mining.Ge BGenome Res

P-Value

SNP ID p-value Traits Study
rs17998526.28E-14alcohol consumption21665994

eQTL of rs1799852 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs1799852 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr3133431016133431089E067-44633
chr3133436424133436504E067-39218
chr3133461397133461916E067-13806
chr3133461945133462055E067-13667
chr3133464069133464119E067-11603
chr3133464448133464526E067-11196
chr3133482923133483028E0677201
chr3133483054133483594E0677332
chr3133483998133484070E0678276
chr3133436424133436504E068-39218
chr3133464069133464119E068-11603
chr3133482562133482616E0686840
chr3133482923133483028E0687201
chr3133483054133483594E0687332
chr3133431016133431089E069-44633
chr3133436424133436504E069-39218
chr3133461397133461916E069-13806
chr3133461945133462055E069-13667
chr3133464069133464119E069-11603
chr3133473014133473073E069-2649
chr3133473315133473659E069-2063
chr3133476260133476458E069538
chr3133482562133482616E0696840
chr3133482923133483028E0697201
chr3133483054133483594E0697332
chr3133483998133484070E0698276
chr3133484337133484387E0698615
chr3133482923133483028E0707201
chr3133483054133483594E0707332
chr3133431016133431089E071-44633
chr3133436424133436504E071-39218
chr3133461397133461916E071-13806
chr3133461945133462055E071-13667
chr3133464069133464119E071-11603
chr3133473014133473073E071-2649
chr3133473315133473659E071-2063
chr3133482562133482616E0716840
chr3133482923133483028E0717201
chr3133483054133483594E0717332
chr3133483998133484070E0718276
chr3133484337133484387E0718615
chr3133431016133431089E072-44633
chr3133461397133461916E072-13806
chr3133461945133462055E072-13667
chr3133464069133464119E072-11603
chr3133464448133464526E072-11196
chr3133473014133473073E072-2649
chr3133482923133483028E0727201
chr3133483054133483594E0727332
chr3133483998133484070E0728276
chr3133484337133484387E0728615
chr3133436424133436504E073-39218
chr3133461397133461916E073-13806
chr3133461945133462055E073-13667
chr3133464448133464526E073-11196
chr3133482923133483028E0737201
chr3133483054133483594E0737332
chr3133431016133431089E074-44633
chr3133436424133436504E074-39218
chr3133461397133461916E074-13806
chr3133461945133462055E074-13667
chr3133464069133464119E074-11603
chr3133473014133473073E074-2649
chr3133473315133473659E074-2063
chr3133476260133476458E074538
chr3133482562133482616E0746840
chr3133482923133483028E0747201
chr3133483054133483594E0747332
chr3133483998133484070E0748276
chr3133484337133484387E0748615
chr3133464448133464526E082-11196









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-10570
chr3133465195133465439E067-10283
chr3133465691133465761E067-9961
chr3133468272133468322E067-7400
chr3133524082133525550E06748360
chr3133525588133525634E06749866
chr3133464975133465152E068-10570
chr3133465195133465439E068-10283
chr3133465691133465761E068-9961
chr3133468272133468322E068-7400
chr3133524082133525550E06848360
chr3133525588133525634E06849866
chr3133464975133465152E069-10570
chr3133465195133465439E069-10283
chr3133465691133465761E069-9961
chr3133468272133468322E069-7400
chr3133524082133525550E06948360
chr3133465195133465439E070-10283
chr3133524082133525550E07048360
chr3133525588133525634E07049866
chr3133464975133465152E071-10570
chr3133465195133465439E071-10283
chr3133465691133465761E071-9961
chr3133468272133468322E071-7400
chr3133524082133525550E07148360
chr3133525588133525634E07149866
chr3133464975133465152E072-10570
chr3133465195133465439E072-10283
chr3133465691133465761E072-9961
chr3133468272133468322E072-7400
chr3133524082133525550E07248360
chr3133525588133525634E07249866
chr3133464975133465152E073-10570
chr3133465195133465439E073-10283
chr3133465691133465761E073-9961
chr3133468272133468322E073-7400
chr3133524082133525550E07348360
chr3133525588133525634E07349866
chr3133464975133465152E074-10570
chr3133465195133465439E074-10283
chr3133465691133465761E074-9961
chr3133468272133468322E074-7400
chr3133524082133525550E07448360
chr3133525588133525634E07449866
chr3133464975133465152E081-10570
chr3133524082133525550E08148360
chr3133525588133525634E08149866
chr3133464975133465152E082-10570
chr3133465195133465439E082-10283
chr3133524082133525550E08248360
chr3133525588133525634E08249866