rs1799899

Homo sapiens
G>A
TF : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0053 (6456/121406,ExAC)
A=0056 (1695/29926,GnomAD)
A=0024 (720/29118,TOPMED)
A=0031 (153/5008,1000G)
A=0049 (187/3854,ALSPAC)
A=0046 (169/3708,TWINSUK)
chr3:133756968 (GRCh38.p7) (3q22.1)
AD
GWASdb2
9   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133756968G>A
GRCh37.p13 chr 3NC_000003.11:g.133475812G>A
TF RefSeqGeneNG_013080.1:g.15836G>A

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.829G>AG [GGC]> S [AGC]Coding Sequence Variant
serotransferrin isoform 1 precursorNP_001054.1:p.Gly...NP_001054.1:p.Gly277SerG [Gly]> S [Ser]Missense Variant
TF transcript variant X1XM_017007089.1:c....XM_017007089.1:c.829G>AG [GGC]> S [AGC]Coding Sequence Variant
serotransferrin isoform X1XP_016862578.1:p....XP_016862578.1:p.Gly277SerG [Gly]> S [Ser]Missense Variant
TF transcript variant X2XM_017007090.1:c....XM_017007090.1:c.829G>AG [GGC]> S [AGC]Coding Sequence Variant
serotransferrin isoform X1XP_016862579.1:p....XP_016862579.1:p.Gly277SerG [Gly]> S [Ser]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.998A=0.002
1000GenomesAmericanSub694G=0.960A=0.040
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.929A=0.071
1000GenomesGlobalStudy-wide5008G=0.969A=0.031
1000GenomesSouth AsianSub978G=0.950A=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.951A=0.049
The Exome Aggregation ConsortiumAmericanSub21984G=0.981A=0.018
The Exome Aggregation ConsortiumAsianSub25166G=0.969A=0.030
The Exome Aggregation ConsortiumEuropeSub73348G=0.928A=0.071
The Exome Aggregation ConsortiumGlobalStudy-wide121406G=0.946A=0.053
The Exome Aggregation ConsortiumOtherSub908G=0.920A=0.080
The Genome Aggregation DatabaseAfricanSub8718G=0.991A=0.009
The Genome Aggregation DatabaseAmericanSub836G=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1620G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18450G=0.914A=0.085
The Genome Aggregation DatabaseGlobalStudy-wide29926G=0.943A=0.056
The Genome Aggregation DatabaseOtherSub302G=0.950A=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.975A=0.024
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.954A=0.046
PMID Title Author Journal
24121126Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin.Rhodes SLNeurobiol Dis
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
27462317Association Study for 26 Candidate Loci in Idiopathic Pulmonary Fibrosis Patients from Four European Populations.Kishore AFront Immunol
12752114The G277S mutation in transferrin does not disturb function.Aisen PBr J Haematol
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
27277665Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population.Zholdybayeva EVHum Genomics
11703331Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.Lee PLBr J Haematol
22879966Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study.Verschuren JJPLoS One
16398662Human transferrin G277S mutation and iron deficiency in pregnancy.Delanghe JBr J Haematol

P-Value

SNP ID p-value Traits Study
rs17998991E-09alcohol consumption (transferrin glycosylation)21665994

eQTL of rs1799899 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 rs1799899 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 )
chr3133431016133431089E067-44723
chr3133436424133436504E067-39308
chr3133461397133461916E067-13896
chr3133461945133462055E067-13757
chr3133464069133464119E067-11693
chr3133464448133464526E067-11286
chr3133482923133483028E0677111
chr3133483054133483594E0677242
chr3133483998133484070E0678186
chr3133436424133436504E068-39308
chr3133464069133464119E068-11693
chr3133482562133482616E0686750
chr3133482923133483028E0687111
chr3133483054133483594E0687242
chr3133431016133431089E069-44723
chr3133436424133436504E069-39308
chr3133461397133461916E069-13896
chr3133461945133462055E069-13757
chr3133464069133464119E069-11693
chr3133473014133473073E069-2739
chr3133473315133473659E069-2153
chr3133476260133476458E069448
chr3133482562133482616E0696750
chr3133482923133483028E0697111
chr3133483054133483594E0697242
chr3133483998133484070E0698186
chr3133484337133484387E0698525
chr3133482923133483028E0707111
chr3133483054133483594E0707242
chr3133431016133431089E071-44723
chr3133436424133436504E071-39308
chr3133461397133461916E071-13896
chr3133461945133462055E071-13757
chr3133464069133464119E071-11693
chr3133473014133473073E071-2739
chr3133473315133473659E071-2153
chr3133482562133482616E0716750
chr3133482923133483028E0717111
chr3133483054133483594E0717242
chr3133483998133484070E0718186
chr3133484337133484387E0718525
chr3133431016133431089E072-44723
chr3133461397133461916E072-13896
chr3133461945133462055E072-13757
chr3133464069133464119E072-11693
chr3133464448133464526E072-11286
chr3133473014133473073E072-2739
chr3133482923133483028E0727111
chr3133483054133483594E0727242
chr3133483998133484070E0728186
chr3133484337133484387E0728525
chr3133436424133436504E073-39308
chr3133461397133461916E073-13896
chr3133461945133462055E073-13757
chr3133464448133464526E073-11286
chr3133482923133483028E0737111
chr3133483054133483594E0737242
chr3133431016133431089E074-44723
chr3133436424133436504E074-39308
chr3133461397133461916E074-13896
chr3133461945133462055E074-13757
chr3133464069133464119E074-11693
chr3133473014133473073E074-2739
chr3133473315133473659E074-2153
chr3133476260133476458E074448
chr3133482562133482616E0746750
chr3133482923133483028E0747111
chr3133483054133483594E0747242
chr3133483998133484070E0748186
chr3133484337133484387E0748525
chr3133464448133464526E082-11286









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-10660
chr3133465195133465439E067-10373
chr3133465691133465761E067-10051
chr3133468272133468322E067-7490
chr3133524082133525550E06748270
chr3133525588133525634E06749776
chr3133464975133465152E068-10660
chr3133465195133465439E068-10373
chr3133465691133465761E068-10051
chr3133468272133468322E068-7490
chr3133524082133525550E06848270
chr3133525588133525634E06849776
chr3133464975133465152E069-10660
chr3133465195133465439E069-10373
chr3133465691133465761E069-10051
chr3133468272133468322E069-7490
chr3133524082133525550E06948270
chr3133465195133465439E070-10373
chr3133524082133525550E07048270
chr3133525588133525634E07049776
chr3133464975133465152E071-10660
chr3133465195133465439E071-10373
chr3133465691133465761E071-10051
chr3133468272133468322E071-7490
chr3133524082133525550E07148270
chr3133525588133525634E07149776
chr3133464975133465152E072-10660
chr3133465195133465439E072-10373
chr3133465691133465761E072-10051
chr3133468272133468322E072-7490
chr3133524082133525550E07248270
chr3133525588133525634E07249776
chr3133464975133465152E073-10660
chr3133465195133465439E073-10373
chr3133465691133465761E073-10051
chr3133468272133468322E073-7490
chr3133524082133525550E07348270
chr3133525588133525634E07349776
chr3133464975133465152E074-10660
chr3133465195133465439E074-10373
chr3133465691133465761E074-10051
chr3133468272133468322E074-7490
chr3133524082133525550E07448270
chr3133525588133525634E07449776
chr3133464975133465152E081-10660
chr3133524082133525550E08148270
chr3133525588133525634E08149776
chr3133464975133465152E082-10660
chr3133465195133465439E082-10373
chr3133524082133525550E08248270
chr3133525588133525634E08249776