rs1049296

Homo sapiens
C>T
TF : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0160 (19445/121410,ExAC)
T=0131 (3938/29964,GnomAD)
T=0118 (3447/29118,TOPMED)
T=0156 (783/5008,1000G)
T=0163 (627/3854,ALSPAC)
T=0162 (601/3708,TWINSUK)
chr3:133775510 (GRCh38.p7) (3q22.1)
AD
GWASdb2
36   publication(s)
See rs on genome
77 Enhancers around
51 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133775510C>T
GRCh37.p13 chr 3NC_000003.11:g.133494354C>T
TF RefSeqGeneNG_013080.1:g.34378C>T

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.176...NM_001063.3:c.1765C>TP [CCT]> S [TCT]Coding Sequence Variant
serotransferrin isoform 1 precursorNP_001054.1:p.Pro...NP_001054.1:p.Pro589SerP [Pro]> S [Ser]Missense Variant
TF transcript variant X1XM_017007089.1:c....XM_017007089.1:c.1765C>TP [CCT]> S [TCT]Coding Sequence Variant
serotransferrin isoform X1XP_016862578.1:p....XP_016862578.1:p.Pro589SerP [Pro]> S [Ser]Missense Variant
TF transcript variant X2XM_017007090.1:c....XM_017007090.1:c.1765C>TP [CCT]> S [TCT]Coding Sequence Variant
serotransferrin isoform X1XP_016862579.1:p....XP_016862579.1:p.Pro589SerP [Pro]> S [Ser]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.939T=0.061
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=0.744T=0.256
1000GenomesEuropeSub1006C=0.862T=0.138
1000GenomesGlobalStudy-wide5008C=0.844T=0.156
1000GenomesSouth AsianSub978C=0.770T=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.837T=0.163
The Exome Aggregation ConsortiumAmericanSub21984C=0.906T=0.093
The Exome Aggregation ConsortiumAsianSub25164C=0.768T=0.231
The Exome Aggregation ConsortiumEuropeSub73354C=0.844T=0.155
The Exome Aggregation ConsortiumGlobalStudy-wide121410C=0.839T=0.160
The Exome Aggregation ConsortiumOtherSub908C=0.830T=0.170
The Genome Aggregation DatabaseAfricanSub8724C=0.925T=0.075
The Genome Aggregation DatabaseAmericanSub838C=0.880T=0.120
The Genome Aggregation DatabaseEast AsianSub1620C=0.741T=0.259
The Genome Aggregation DatabaseEuropeSub18480C=0.853T=0.146
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.868T=0.131
The Genome Aggregation DatabaseOtherSub302C=0.780T=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.881T=0.118
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.838T=0.162
PMID Title Author Journal
24121126Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin.Rhodes SLNeurobiol Dis
25144566Genetic variation in iron metabolism is associated with neuropathic pain and pain severity in HIV-infected patients on antiretroviral therapy.Kallianpur ARPLoS One
14757931Transferrin C2 variant does confer a risk for Alzheimer's disease in caucasians.Zambenedetti PJ Alzheimers Dis
20659343HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.Cantonwine DEnviron Health
25287020Maternal iron metabolism gene variants modify umbilical cord blood lead levels by gene-environment interaction: a birth cohort study.Karwowski MPEnviron Health
20574532Intermediate phenotypes identify divergent pathways to Alzheimer's disease.Shulman JMPLoS One
20029940Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease.Kauwe JSAm J Med Genet B Neuropsychiatr Genet
18795173Variants in iron metabolism genes predict higher blood lead levels in young children.Hopkins MREnviron Health Perspect
23968943Meta-analysis on the association between the TF gene rs1049296 and AD.Wang YCan J Neurol Sci
24391736The contribution of diet and genotype to iron status in women: a classical twin study.Fairweather-Tait SJPLoS One
23573206Genetic loci associated with Alzheimer's disease and cerebrospinal fluid biomarkers in a Finnish case-control cohort.Elias-Sonnenschein LSPLoS One
18830724Assessment of Alzheimer's disease case-control associations using family-based methods.Schjeide BMNeurogenetics
18813964Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.Kauwe JSNeurogenetics
15060098Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease.Robson KJJ Med Genet
9272172Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant.Namekata KHum Genet
23732512Effect modification by transferrin C2 polymorphism on lead exposure, hemoglobin levels, and IQ.Roy ANeurotoxicology
25071582HFE gene variants, iron, and lipids: a novel connection in Alzheimer's disease.Ali-Rahmani FFront Pharmacol
25649863Identifying genetic interactions associated with late-onset Alzheimer's disease.Floudas CSBioData Min
23820649Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Cooper DNHum Genet
25887915Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.Ilyas MBMC Genomics
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
19879291Environmental manganese exposure in residents living near a ferromanganese refinery in Southeast Ohio: a pilot study.Haynes ENNeurotoxicology
27255824Determinants of iron accumulation in the normal aging brain.Pirpamer LNeurobiol Aging
23996192Toenail iron, genetic determinants of iron status, and the risk of glioma.Anic GMCancer Causes Control
23386860Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.Pasquale LRFront Genet
19165391Iron metabolism genes, low-level lead exposure, and QT interval.Park SKEnviron Health Perspect
19084216Association of genetic variants at 3q22 with nephropathy in patients with type 1 diabetes mellitus.He BAm J Hum Genet
21537449Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis.Webster JInt J Mol Epidemiol Genet
18779388Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease.Kavvoura FKAm J Epidemiol
20534741Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.Corneveaux JJHum Mol Genet
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
17357082Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.Melquist SAm J Hum Genet
22074419Associations of iron metabolism genes with blood manganese levels: a population-based study with validation data from animal models.Claus Henn BEnviron Health
23935582Effects of hemochromatosis and transferrin gene mutations on peripheral iron dyshomeostasis in mild cognitive impairment and Alzheimer's and Parkinson's diseases.Mariani SFront Aging Neurosci

P-Value

SNP ID p-value Traits Study
rs10492965E-43alcohol consumption (transferrin glycosylation)21665994

eQTL of rs1049296 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 rs1049296 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 )
chr3133461397133461916E067-32438
chr3133461945133462055E067-32299
chr3133464069133464119E067-30235
chr3133464448133464526E067-29828
chr3133482923133483028E067-11326
chr3133483054133483594E067-10760
chr3133483998133484070E067-10284
chr3133464069133464119E068-30235
chr3133482562133482616E068-11738
chr3133482923133483028E068-11326
chr3133483054133483594E068-10760
chr3133461397133461916E069-32438
chr3133461945133462055E069-32299
chr3133464069133464119E069-30235
chr3133473014133473073E069-21281
chr3133473315133473659E069-20695
chr3133476260133476458E069-17896
chr3133482562133482616E069-11738
chr3133482923133483028E069-11326
chr3133483054133483594E069-10760
chr3133483998133484070E069-10284
chr3133484337133484387E069-9967
chr3133540603133541021E06946249
chr3133541191133541245E06946837
chr3133482923133483028E070-11326
chr3133483054133483594E070-10760
chr3133461397133461916E071-32438
chr3133461945133462055E071-32299
chr3133464069133464119E071-30235
chr3133473014133473073E071-21281
chr3133473315133473659E071-20695
chr3133482562133482616E071-11738
chr3133482923133483028E071-11326
chr3133483054133483594E071-10760
chr3133483998133484070E071-10284
chr3133484337133484387E071-9967
chr3133540337133540417E07145983
chr3133461397133461916E072-32438
chr3133461945133462055E072-32299
chr3133464069133464119E072-30235
chr3133464448133464526E072-29828
chr3133473014133473073E072-21281
chr3133482923133483028E072-11326
chr3133483054133483594E072-10760
chr3133483998133484070E072-10284
chr3133484337133484387E072-9967
chr3133461397133461916E073-32438
chr3133461945133462055E073-32299
chr3133464448133464526E073-29828
chr3133482923133483028E073-11326
chr3133483054133483594E073-10760
chr3133540006133540074E07345652
chr3133540337133540417E07345983
chr3133540603133541021E07346249
chr3133541035133541081E07346681
chr3133541191133541245E07346837
chr3133461397133461916E074-32438
chr3133461945133462055E074-32299
chr3133464069133464119E074-30235
chr3133473014133473073E074-21281
chr3133473315133473659E074-20695
chr3133476260133476458E074-17896
chr3133482562133482616E074-11738
chr3133482923133483028E074-11326
chr3133483054133483594E074-10760
chr3133483998133484070E074-10284
chr3133484337133484387E074-9967
chr3133540006133540074E07445652
chr3133540337133540417E07445983
chr3133540603133541021E07446249
chr3133541035133541081E07446681
chr3133541191133541245E07446837
chr3133541431133541497E07447077
chr3133541623133541762E07447269
chr3133541910133541964E07447556
chr3133526132133526214E08131778
chr3133464448133464526E082-29828










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-29202
chr3133465195133465439E067-28915
chr3133465691133465761E067-28593
chr3133468272133468322E067-26032
chr3133524082133525550E06729728
chr3133525588133525634E06731234
chr3133464975133465152E068-29202
chr3133465195133465439E068-28915
chr3133465691133465761E068-28593
chr3133468272133468322E068-26032
chr3133524082133525550E06829728
chr3133525588133525634E06831234
chr3133464975133465152E069-29202
chr3133465195133465439E069-28915
chr3133465691133465761E069-28593
chr3133468272133468322E069-26032
chr3133524082133525550E06929728
chr3133465195133465439E070-28915
chr3133524082133525550E07029728
chr3133525588133525634E07031234
chr3133464975133465152E071-29202
chr3133465195133465439E071-28915
chr3133465691133465761E071-28593
chr3133468272133468322E071-26032
chr3133524082133525550E07129728
chr3133525588133525634E07131234
chr3133464975133465152E072-29202
chr3133465195133465439E072-28915
chr3133465691133465761E072-28593
chr3133468272133468322E072-26032
chr3133524082133525550E07229728
chr3133525588133525634E07231234
chr3133464975133465152E073-29202
chr3133465195133465439E073-28915
chr3133465691133465761E073-28593
chr3133468272133468322E073-26032
chr3133524082133525550E07329728
chr3133525588133525634E07331234
chr3133464975133465152E074-29202
chr3133465195133465439E074-28915
chr3133465691133465761E074-28593
chr3133468272133468322E074-26032
chr3133524082133525550E07429728
chr3133525588133525634E07431234
chr3133464975133465152E081-29202
chr3133524082133525550E08129728
chr3133525588133525634E08131234
chr3133464975133465152E082-29202
chr3133465195133465439E082-28915
chr3133524082133525550E08229728
chr3133525588133525634E08231234