rs61751012

This variant is located in the AKR1A1 gene.

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GWAS Catalog Trait Associations (1)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.54
p 4.0e-19
N 10,708
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not provided; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Colorectal cancer; Gastric cancer; Thymoma; Hepatocellular carcinoma; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Sarcoma; Ovarian serous cystadenocarcinoma

View on ClinVar →

About AKR1A1

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]

View all AKR1A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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