rs4575545

This is a coding sequence variant variant in the MAFTRR gene.

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GWAS Catalog Trait Associations (11)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

alkaline phosphatase measurement

Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele G
OR 0.01
p 6.0e-114
N 437,438
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.04
p 4.0e-89
N 463,178
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 1.0e-103
N 394,642
Large GWAS
European
Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)
Allele G
OR 18.90
p 8.0e-80
N 390,964
Large GWAS
multi-ancestry

level of transthyretin in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.09
p 3.0e-53
N 47,745
Large GWAS
European

urate measurement

Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele A
OR 0.04
p 4.0e-51
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry
Gill D et al. “Urate, Blood Pressure, and Cardiovascular Disease: Evidence From Mendelian Randomization and Meta-Analysis of Clinical Trials.” Hypertension (dallas, Tex. : 1979) 77(2):383-392 (2021)
Allele A
OR 0.03
p 9.0e-37
N 454,183
Meta-analysisLarge GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 8.0e-44
N 394,642
Large GWAS
European

uric acid measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 2.0e-43
N 473,241
Large GWAS
multi-ancestry

platelet count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR —
p 4.0e-32
N 721,201
Large GWAS
multi-ancestry
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 8.0e-30
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 5.0e-21
N 499,097
Large GWAS
multi-ancestry

carboxypeptidase M measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 2.0e-18
N 47,745
Large GWAS
European

vitamin D level

Revez JA et al. “Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration.” Nature Communications 11(1):1647 (2020)
Allele G
OR —
β 0.016
p 3.0e-13
N 417,580
Large GWAS
European
Wang X et al. “Cross-ancestry analyses identify new genetic loci associated with 25-hydroxyvitamin D.” Plos Genetics 19(11):e1011033 (2023)
Allele G
OR 0.01
p 1.0e-10
N 409,654
Large GWAS
European

IGF-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 9.0e-13
N 394,642
Large GWAS
European

gout

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.06
p 1.0e-12
N 620,935
Major Consortium StudyLarge GWAS
multi-ancestry

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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