rs10949482

This variant is located in the NHLRC1 gene.

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GWAS Catalog Trait Associations (1)

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

thiopurine metabolite measurement, trait in response to mercaptopurine

Tulstrup M et al. “NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia.” Leukemia 32(12):2527-2535 (2018)

Allele T

OR —

p 1.0e-20

N 454

Small GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters

Lafora disease; not provided

View on ClinVar →

About NHLRC1

The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]

View all NHLRC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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