{{Rsnum
|rsid=4820268
|Gene=TMPRSS6
|Chromosome=22
|position=37073551
|Orientation=plus
|ReferenceAllele=C
|GMAF=0.4564
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TMPRSS6
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 25.9 | 52.7 | 21.4
| HCB | 19.7 | 51.8 | 28.5
| JPT | 13.3 | 49.6 | 37.2
| YRI | 63.3 | 32.0 | 4.8
| ASW | 36.8 | 47.4 | 15.8
| CHB | 19.7 | 51.8 | 28.5
| CHD | 23.1 | 49.1 | 27.8
| GIH | 19.0 | 37.0 | 44.0
| LWK | 37.3 | 53.6 | 9.1
| MEX | 24.6 | 38.6 | 36.8
| MKK | 39.1 | 43.6 | 17.3
| TSI | 25.5 | 51.0 | 23.5
| HapMapRevision=28
}}{{PMID Auto GWAS
|PMID=19084217
|Trait=Serum markers of iron status
|Title=Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
|RiskAllele=
|Pval=0.000006
|OR=NR
|ORtxt=NR
|OA=1
}}

{{PMID Auto GWAS
|PMID=19880490
|Trait=Serum iron concentration
|Title=A genome-wide association analysis of serum iron concentrations
|RiskAllele=A
|Pval=5E-9
|OR=4.39
|ORtxt=[2.90-5.88] ug/dL increase
|OA=1
}}

{{PharmGKB
|RSID=rs4820268
|Name_s=
|Gene_s=TMPRSS6
|Feature=
|Evidence=PubMed ID:19084217; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. (Initial Sample Size: 459 twin pairs; Replication Sample Size: NR); (Region: 22q12.3; Reported Gene(s): TMPRSS6; Risk Allele: rs4820268-?); (p-value= 0.000006).This variant is associated with Serum markers of iron status.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740125
}}

{{PMID Auto GWAS
|PMID=19853236
|Trait=Hematology traits
|Title=Sequence variants in three loci influence monocyte counts and erythrocyte volume
|RiskAllele=A
|Pval=4E-12
|OR=0.13
|ORtxt=[0.09-0.17] s.d. increase
|OA=1
}}
{{PMID Auto GWAS
|PMID=20927387
|Trait=None
|Title=A genome-wide association study of red blood cell traits using the electronic medical record
|RiskAllele=G
|Pval=1E-12
|OR=0.09
|ORtxt=[0.07-0.11] unit decrease
|OA=1
}}
{{PMID Auto
|PMID=21208937
|Title=Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
|OA=1
}}

{{PMID Auto
|PMID=18454203
|Title=Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.
|OA=1
}}

{{PMID Auto
|PMID=19673882
|Title=A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
|OA=1
}}

{{PMID Auto
|PMID=22301935
|Title=Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population.
}}

{{PMID Auto
|PMID=22323359
|Title=TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4820268
|overall_frequency_n=6526
|overall_frequency_d=10758
|overall_frequency=0.606618
|n_genomes=44
|n_genomes_annotated=0
|n_haplomes=60
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23092954
|Title=SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.
|OA=1
}}

{{PMID Auto
|PMID=23468552
|Title=Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}