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rs4820268

From SNPedia

Orientationplus
Stabilizedplus
Make rs4820268(A;A)
Make rs4820268(A;G)
Make rs4820268(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position37073551
GeneTMPRSS6
is asnp
is mentioned by
dbSNPrs4820268
ebirs4820268
HLIrs4820268
Exacrs4820268
Varsomers4820268
Maprs4820268
PheGenIrs4820268
hapmaprs4820268
1000 genomesrs4820268
hgdprs4820268
ensemblrs4820268
gopubmedrs4820268
geneviewrs4820268
scholarrs4820268
googlers4820268
pharmgkbrs4820268
gwascentralrs4820268
openSNPrs4820268
23andMers4820268
23andMe allrs4820268
SNP Nexus

SNPshotrs4820268
SNPdbers4820268
MSV3drs4820268
GWAS Ctlgrs4820268
GMAF0.4564
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 0.000006
Odds Ratio NR NR
GWAS snp
PMID [PMID 19880490OA-icon.png]
Trait Serum iron concentration
Title A genome-wide association analysis of serum iron concentrations
Risk Allele A
P-val 5E-9
Odds Ratio 4.39 [2.90-5.88] ug/dL increase


GWAS snp
PMID [PMID 19853236OA-icon.png]
Trait Hematology traits
Title Sequence variants in three loci influence monocyte counts and erythrocyte volume
Risk Allele A
P-val 4E-12
Odds Ratio 0.13 [0.09-0.17] s.d. increase
GWAS snp
PMID [PMID 20927387OA-icon.png]
Trait
Title A genome-wide association study of red blood cell traits using the electronic medical record
Risk Allele G
P-val 1E-12
Odds Ratio 0.09 [0.07-0.11] unit decrease

[PMID 21208937OA-icon.png] Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels


[PMID 18454203OA-icon.png] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.


[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 22301935] Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population.


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


GET Evidence
rs4820268
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.606618
summary



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


[PMID 23468552OA-icon.png] Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults.