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rs3811647

From SNPedia

Orientationplus
Stabilizedplus
Make rs3811647(A;A)
Make rs3811647(A;G)
Make rs3811647(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position133765185
GeneTF
is asnp
is mentioned by
dbSNPrs3811647
ebirs3811647
HLIrs3811647
Exacrs3811647
Varsomers3811647
Maprs3811647
PheGenIrs3811647
hapmaprs3811647
1000 genomesrs3811647
hgdprs3811647
ensemblrs3811647
gopubmedrs3811647
geneviewrs3811647
scholarrs3811647
googlers3811647
pharmgkbrs3811647
gwascentralrs3811647
openSNPrs3811647
23andMers3811647
23andMe allrs3811647
SNP Nexus

SNPshotrs3811647
SNPdbers3811647
MSV3drs3811647
GWAS Ctlgrs3811647
GMAF0.3393
Max Magnitude
? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 19084217OA-icon.png]
Trait Serum markers of iron status
Title Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
Risk Allele
P-val 3E-15
Odds Ratio 0.46 [0.34-0.58] SD decrease
OMIM190000
DescTRANSFERRIN; TF
Variant
Relatedalso
[PMID 21208937OA-icon.png] Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
GWAS snp
PMID [PMID 21665994OA-icon.png]
Trait
Title Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
Risk Allele A
P-val 1E-35
Odds Ratio 0.3580 [0.30-0.42] unit increase
GWAS snp
PMID [PMID 21785125]
Trait
Title Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations.
Risk Allele
P-val 2E-16
Odds Ratio 0.3380 [0.26-0.42] ng/ml increase


[PMID 19673882OA-icon.png] A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.


[PMID 22323359] TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.


GET Evidence
rs3811647
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.289062
summary



[PMID 23903878] Prenatal methylmercury exposure and genetic predisposition to cognitive deficit at age 8 years


[PMID 23092954OA-icon.png] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.

GWAS snp
PMID [PMID 21483845OA-icon.png]
Trait Iron status biomarkers
Title Genome-wide association study identifies genetic loci associated with iron deficiency.
Risk Allele A
P-val 5E-10
Odds Ratio 21.49 [NR] ug/dL increase


[PMID 24663082OA-icon.png] Influence of diet, menstruation and genetic factors on iron status: a cross-sectional study in Spanish women of childbearing age


[PMID 25603596] [Effects of the SNPs on rs855791 and rs3811647 on the levels of SF and sTfR in the group of 8 - 14]


[PMID 25809685] Common Variants and Haplotypes in the TF, TNF-α, and TMPRSS6 Genes Are Associated with Iron Status in a Female Black South African Population