rs62062271

This variant is located in the MAPT gene.

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GWAS Catalog Trait Associations (8)

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

erythrocyte count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.04
p 1.0e-93
N 503,987
Large GWAS
multi-ancestry
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 C
OR 0.06
p 2.0e-60
N 581,817
Major Consortium StudyLarge GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.05
p 9.0e-66
N 408,112
Large GWAS
European

hemoglobin measurement

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 T
OR 0.03
p 6.0e-21
N 584,680
Major Consortium StudyLarge GWAS
multi-ancestry

neuroimaging measurement

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele C
OR 0.10
p 3.0e-19
N 20,859
Major Consortium StudyLarge GWAS
European

testosterone measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele C
OR 0.03
p 5.0e-18
N 194,453
Large GWAS
European
Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele C
OR 0.13
p 3.0e-10
N 148,248
Major Consortium StudyLarge GWAS
European
Fantus RJ et al. “Genetic Susceptibility for Low Testosterone in Men and Its Implications in Biology and Screening: Data from the UK Biobank.” European Urology Open Science 29:36-46 (2021)
Allele C
OR 1.09
p 5.0e-9
N 111,676
Major Consortium StudyLarge GWAS
European

mean corpuscular hemoglobin concentration

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 T
OR 0.03
p 4.0e-17
N 583,889
Major Consortium StudyLarge GWAS
multi-ancestry

prostate specific antigen amount

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 T
OR 0.03
p 1.0e-16
N 254,586
Major Consortium StudyLarge GWAS
European

hematocrit

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 T
OR 0.03
p 7.0e-17
N 584,647
Major Consortium StudyLarge GWAS
multi-ancestry

Red cell distribution width

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 T
OR 0.05
p 5.0e-14
N 51,938
Major Consortium StudyLarge GWAS
Hispanic or Latin American

About MAPT

This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]

View all MAPT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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