rs12048493
This is a intron variant variant in the OTUD7B gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
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 A
OR 0.09
p 3.0e-89
N 607,511
Major Consortium StudyLarge GWAS
multi-ancestry
spinal stenosis
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 A
OR 0.06
p 3.0e-17
N 427,948
Major Consortium StudyLarge GWAS
European
breast carcinoma
Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele A
OR 0.95
p 4.0e-14
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele A
OR 1.04
p 9.0e-14
N 139,274
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele A
OR 1.07
p 1.0e-9
N 33,832
Large GWAS
European
glaucoma
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 A
OR 0.04
p 5.0e-14
N 430,721
Major Consortium StudyLarge GWAS
European
BMI-adjusted waist circumference, forced expiratory volume
Zhu Z et al. “A large-scale genome-wide association analysis of lung function in the Chinese population identifies novel loci and highlights shared genetic aetiology with obesity.” The European Respiratory Journal 58(4) (2021)
Allele A
OR —
p 2.0e-10
N 100,285
Large GWAS
multi-ancestry
body weight
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 4.0e-20
N 525,535
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 A
OR 0.04
p 4.0e-40
N 425,537
Major Consortium StudyLarge GWAS
European
cardiovascular measurement
Kany S et al. “Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.” Nature Genetics 58(1):47-56 (2026)
Allele A
OR 0.04
p 2.0e-11
N 59,571
Large GWAS
European
open-angle glaucoma
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 A
OR 0.05
p 2.0e-12
N 434,033
Major Consortium StudyLarge GWAS
European
About OTUD7B
Enables K48-linked deubiquitinase activity and cysteine-type deubiquitinase activity. Involved in several processes, including negative regulation of protein localization to nucleus; protein deubiquitination; and regulation of intracellular signal transduction. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
View all OTUD7B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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