rs1358024

Homo sapiens
C>T
TF : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0132 (3982/29966,GnomAD)
T=0119 (3474/29118,TOPMED)
T=0192 (962/5008,1000G)
T=0155 (599/3854,ALSPAC)
T=0165 (612/3708,TWINSUK)
chr3:133765344 (GRCh38.p7) (3q22.1)
AD
GWASdb2
6   publication(s)
See rs on genome
67 Enhancers around
51 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.133765344C>T
GRCh37.p13 chr 3NC_000003.11:g.133484188C>T
TF RefSeqGeneNG_013080.1:g.24212C>T

Gene: TF, transferrin(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TF transcript variant 1NM_001063.3:c.N/AIntron Variant
TF transcript variant X1XM_017007089.1:c.N/AIntron Variant
TF transcript variant X2XM_017007090.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.992T=0.008
1000GenomesAmericanSub694C=0.830T=0.170
1000GenomesEast AsianSub1008C=0.614T=0.386
1000GenomesEuropeSub1006C=0.814T=0.186
1000GenomesGlobalStudy-wide5008C=0.808T=0.192
1000GenomesSouth AsianSub978C=0.730T=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.845T=0.155
The Genome Aggregation DatabaseAfricanSub8734C=0.968T=0.032
The Genome Aggregation DatabaseAmericanSub838C=0.800T=0.200
The Genome Aggregation DatabaseEast AsianSub1616C=0.621T=0.379
The Genome Aggregation DatabaseEuropeSub18478C=0.845T=0.155
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.867T=0.132
The Genome Aggregation DatabaseOtherSub300C=0.820T=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.880T=0.119
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.835T=0.165
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
21665994Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.Kutalik ZHum Mol Genet
21483845Genome-wide association study identifies genetic loci associated with iron deficiency.McLaren CEPLoS One
19084217Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.Benyamin BAm J Hum Genet
22761678Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations.McLaren CEPLoS One
25112650Testing departure from additivity in Tukey's model using shrinkage: application to a longitudinal setting.Ko YAStat Med

P-Value

SNP ID p-value Traits Study
rs13580241.09E-07alcohol consumption21665994

eQTL of rs1358024 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 rs1358024 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 )
chr3133436424133436504E067-47684
chr3133461397133461916E067-22272
chr3133461945133462055E067-22133
chr3133464069133464119E067-20069
chr3133464448133464526E067-19662
chr3133482923133483028E067-1160
chr3133483054133483594E067-594
chr3133483998133484070E067-118
chr3133436424133436504E068-47684
chr3133464069133464119E068-20069
chr3133482562133482616E068-1572
chr3133482923133483028E068-1160
chr3133483054133483594E068-594
chr3133436424133436504E069-47684
chr3133461397133461916E069-22272
chr3133461945133462055E069-22133
chr3133464069133464119E069-20069
chr3133473014133473073E069-11115
chr3133473315133473659E069-10529
chr3133476260133476458E069-7730
chr3133482562133482616E069-1572
chr3133482923133483028E069-1160
chr3133483054133483594E069-594
chr3133483998133484070E069-118
chr3133484337133484387E069149
chr3133482923133483028E070-1160
chr3133483054133483594E070-594
chr3133436424133436504E071-47684
chr3133461397133461916E071-22272
chr3133461945133462055E071-22133
chr3133464069133464119E071-20069
chr3133473014133473073E071-11115
chr3133473315133473659E071-10529
chr3133482562133482616E071-1572
chr3133482923133483028E071-1160
chr3133483054133483594E071-594
chr3133483998133484070E071-118
chr3133484337133484387E071149
chr3133461397133461916E072-22272
chr3133461945133462055E072-22133
chr3133464069133464119E072-20069
chr3133464448133464526E072-19662
chr3133473014133473073E072-11115
chr3133482923133483028E072-1160
chr3133483054133483594E072-594
chr3133483998133484070E072-118
chr3133484337133484387E072149
chr3133436424133436504E073-47684
chr3133461397133461916E073-22272
chr3133461945133462055E073-22133
chr3133464448133464526E073-19662
chr3133482923133483028E073-1160
chr3133483054133483594E073-594
chr3133436424133436504E074-47684
chr3133461397133461916E074-22272
chr3133461945133462055E074-22133
chr3133464069133464119E074-20069
chr3133473014133473073E074-11115
chr3133473315133473659E074-10529
chr3133476260133476458E074-7730
chr3133482562133482616E074-1572
chr3133482923133483028E074-1160
chr3133483054133483594E074-594
chr3133483998133484070E074-118
chr3133484337133484387E074149
chr3133526132133526214E08141944
chr3133464448133464526E082-19662










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3133464975133465152E067-19036
chr3133465195133465439E067-18749
chr3133465691133465761E067-18427
chr3133468272133468322E067-15866
chr3133524082133525550E06739894
chr3133525588133525634E06741400
chr3133464975133465152E068-19036
chr3133465195133465439E068-18749
chr3133465691133465761E068-18427
chr3133468272133468322E068-15866
chr3133524082133525550E06839894
chr3133525588133525634E06841400
chr3133464975133465152E069-19036
chr3133465195133465439E069-18749
chr3133465691133465761E069-18427
chr3133468272133468322E069-15866
chr3133524082133525550E06939894
chr3133465195133465439E070-18749
chr3133524082133525550E07039894
chr3133525588133525634E07041400
chr3133464975133465152E071-19036
chr3133465195133465439E071-18749
chr3133465691133465761E071-18427
chr3133468272133468322E071-15866
chr3133524082133525550E07139894
chr3133525588133525634E07141400
chr3133464975133465152E072-19036
chr3133465195133465439E072-18749
chr3133465691133465761E072-18427
chr3133468272133468322E072-15866
chr3133524082133525550E07239894
chr3133525588133525634E07241400
chr3133464975133465152E073-19036
chr3133465195133465439E073-18749
chr3133465691133465761E073-18427
chr3133468272133468322E073-15866
chr3133524082133525550E07339894
chr3133525588133525634E07341400
chr3133464975133465152E074-19036
chr3133465195133465439E074-18749
chr3133465691133465761E074-18427
chr3133468272133468322E074-15866
chr3133524082133525550E07439894
chr3133525588133525634E07441400
chr3133464975133465152E081-19036
chr3133524082133525550E08139894
chr3133525588133525634E08141400
chr3133464975133465152E082-19036
chr3133465195133465439E082-18749
chr3133524082133525550E08239894
chr3133525588133525634E08241400