rs151161986

This variant is located in the DNASE1L3 gene.

ClinVar annotation

Uncertain Significance★★★
2 submitters3 publications

not provided; Autosomal systemic lupus erythematosus type 16

View on ClinVar →

Research that mentions this SNP (1)

Evidence for gene–gene epistatic interactions among susceptibility loci for systemic lupus erythematosus
ReviewHughes T. et al.(2012)· Arthritis & Rheumatism

A comprehensive review of genetic variants contributing to systemic lupus erythematosus (SLE), covering both polygenic (>100 susceptibility loci) and monogenic (1-10% of cases) contributions identified through NGS techniques. Key susceptibility genes include STAT4, BANK1, TNFAIP3, BLK, IRF5, ETS1, and TNIP1, with early-onset SLE showing greater genetic burden particularly in Black, Asian, and Hispanic ancestries.

Traits studied:AutoimmunitySystemic lupus erythematosus

About DNASE1L3

This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

View all DNASE1L3 variants →

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…