rs7921238

▶

GWAS Catalog Trait Associations (2)

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

level of T-cell leukemia/lymphoma protein 1A 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 C
OR 0.04
p 7.0e-12
N 47,745
Large GWAS
European

lymphocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 1.0e-11
N 408,112
Large GWAS
European
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 C
OR —
p 9.0e-11
N 643,370
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 C
OR 0.01
p 9.0e-10
N 445,573
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
The most frequentDCLRE1C(ARTEMIS) mutations are based on homologous recombination events
Case reportN=29Ulrich Pannicke et al.(2010)· Human Mutation

A study of 29 novel B⁰/low SCID patients identified 13 different mutations in the DCLRE1C (ARTEMIS) gene, with 59% being gross deletions of exons 1-3 or 1-4 caused by homologous recombination with a pseudoDCLRE1C gene located 61.2 kb upstream. Nine novel mutations were identified, and functional complementation assays demonstrated that all detected variants represent null alleles defective in V(D)J recombination and DNA double-strand break repair.

Traits studied:B⁰/low SCIDOmenn syndromeRadiosensitivitySevere combined immunodeficiency (SCID)V(D)J recombination deficiency
PubMedDOIMetascience Observatory

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…